368 results on '"angiofibromas"'
Search Results
2. Clinical and histopathological evaluation of cutaneous angiofibromas
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Shayan Dasdar, Maryam Nasimi, Nika Kianfar, Kambiz Kamyab, and Arezou Moradi
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Adult ,Male ,Pathology ,medicine.medical_specialty ,Skin Neoplasms ,Histology ,Adolescent ,Acanthosis ,Dermatology ,Angiofibroma ,Pathology and Forensic Medicine ,Young Adult ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Humans ,Medicine ,Child ,Nose ,Histiocyte ,Aged ,Retrospective Studies ,Aged, 80 and over ,business.industry ,Mean age ,Middle Aged ,medicine.disease ,Angiofibromas ,medicine.anatomical_structure ,Child, Preschool ,030220 oncology & carcinogenesis ,Female ,Histopathology ,Fibrous Papule ,business - Abstract
BACKGROUND Angiofibromas are common benign skin lesions that are diagnosed clinically and histopathologically. Fibrous papule (FP) is one of the clinical types of angiofibromas located primarily on the nose. METHODS The cases with the confirmed diagnosis of angiofibroma were enrolled. Demographic features of the patients and clinical characteristics of the lesions were extracted. Moreover, histopathological features of the available slides were microscopically reviewed. RESULTS From 83 cases of cutaneous angiofibromas, 57 (69%) had lesions consistent with FP. The mean age at diagnosis was 37.7 ± 16.3 years and the most common site of involvement was the nose (53% of cases). Regarding the histopathological evaluation of 71 slides, most cases represented vascular changes (97%) and dermal fibroplasia (87%). Melanin incontinence (41%), acanthosis (31%), and lichenoid features (25%) were other common histopathological findings. Moreover, a sparse inflammatory cell infiltrate was present in 68% of cases. The most prevalent inflammatory cells were lymphocytes (61%) and histiocytes (34%). CONCLUSION This study presented the histopathological findings of a series of cutaneous angiofibromas. Dermatopathologists should be aware of these features, especially those that are less common, to better diagnose and differentiate them from malignant neoplasms.
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- 2021
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3. Case report on tuberous sclerosis
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Nadezhda V. Krasnova, Geliya G. Gimalieva, and Larisa G. Sinitsyna
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Skin manifestations ,medicine.medical_specialty ,business.industry ,Visual examination ,tuberous sclerosis ,Dermatology ,Disease ,neurocutaneous disease ,medicine.disease ,Angiofibromas ,Shagreen ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Tuberous sclerosis ,0302 clinical medicine ,Infectious Diseases ,RL1-803 ,030220 oncology & carcinogenesis ,Concomitant ,Medicine ,orphan disease ,medicine.symptom ,business ,Hypopigmentation - Abstract
Patient M., 23 years old, consulted a dermatologist with complaints of rashes on the face, which had bothered since childhood. On objective examination, skin lesions were widespread. A visual examination revealed spots of hypopigmentation, angiofibromas of the face, shagreen fate of the skin, periungual fibromas. She was diagnosed with tuberous sclerosis. Further examination revealed a neoplasm in the brain and right kidney, damage to the lungs, tubular bones, lymphadenopathy. The patient continues to be monitored by a neurologist and therapist. Based on the results of CT scan of the chest organs, an oncologist's consultation was scheduled to conduct an oncology search. Thus, with skin manifestations characteristic of this disease, it is necessary to conduct a comprehensive examination to identify concomitant pathology and early diagnosis of complications.
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- 2021
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4. A case of a rare pelvic neoplasm - unusually large angiofibromas
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I. D. Pokladov, A. V. Vazhenin, O. N. Chernova, and R. E. Shtentsel
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medicine.medical_specialty ,Average size ,Similarity (network science) ,business.industry ,Medicine ,Radiology ,Angiofibroma ,Differential diagnosis ,business ,medicine.disease ,Angiofibromas - Abstract
Pelvic tumors are quite common. Of these, angiofibromas are very rare. It is causes difficulties in differential diagnosis. But getting the right diagnosis is important, given the great similarity with other, often malignant tumors. According to the literature, the average size of angiofibromas does not exceed 12 cm. We present the case of a patient with an unusually large angiofibroma.
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- 2021
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5. Combined Treatment with Electrocauterization, Carbon Dioxide Laser, and Microneedle Fractional Radiofrequency for Facial Angiofibromas in Tuberous Sclerosis Complex: A Case Report and Literature Review
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Jing Mi, Jiying Dong, Huyan Lin, Min Yao, Ying Zeng, Yiqiu Zhang, Min Yan, and Shen Wang
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medicine.medical_specialty ,Facial angiofibromas ,business.industry ,medicine.medical_treatment ,Carbon dioxide laser ,Cheek ,medicine.disease ,Dermatology ,Angiofibromas ,Chin ,Tuberous sclerosis ,medicine.anatomical_structure ,Combined treatment ,medicine ,Electrocauterization ,business - Abstract
Tuberous sclerosis complex is a type of genetic multisystem disease that causes hamartomas in various organs. Facial angiofibromas commonly occur in 80% of patients and are prominently distributed over the cheek, chin, and nasolabial folds with severe disfigurement and emotional distress. Recently, photoelectric devices have been identified for the treatment of angiofibromas with great efficacy and fewer side effects. We report a case of a 42-year-old man with facial angiofibromas, who was treated with a combination of high-frequency electrocauterization, Ultrapulse CO2 laser, and microneedle fractional radiofrequency with 7 sessions and a 6-month follow-up. The patient showed great improvement in relation to the elevated lesions and nodules. A low recurrence rate was observed. This is the first study to investigate the efficacy of high-frequency electrocauterization and microneedle fractional radiofrequency in angiofibromas. It may provide an optimal approach for clinicians wherein a combined treatment of various lasers and electric devices is effective for complicated, protuberant, and firm angiofibromas of specific patients.
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- 2021
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6. Endoscopic resection of juvenile nasopharyngeal angiofibromas
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Christopher Pool and Meghan N. Wilson
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medicine.medical_specialty ,business.industry ,medicine.disease ,Tumor control ,Angiofibromas ,humanities ,Benign tumor ,03 medical and health sciences ,0302 clinical medicine ,Otorhinolaryngology ,Blood loss ,030220 oncology & carcinogenesis ,medicine ,Juvenile ,Surgery ,Endoscopic resection ,Radiology ,030223 otorhinolaryngology ,business - Abstract
Juvenile nasopharyngeal angiofibromas (JNAs) are a rare, highly vascular benign tumor affecting adolescent males. Recent advances in endoscopic visualization and technique have allowed for complete extirpation of these tumors endoscopically. Proponents of this approach find benefit in the lack of facial incisions, decreased intraoperative blood loss, and excellent tumor control. This chapter describes the endoscopic approach to JNAs.
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- 2021
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7. Extranasopharyngeal Angiofibroma of the Natural Ostium of Maxillary Sinus
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Seong Kook Park, Chanhyeon Park, Eung Rok Yeon, and Soo Jin Jeong
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Adult ,Male ,medicine.medical_specialty ,Maxillary sinus ,Nose Neoplasms ,Nasal congestion ,Angiofibroma ,otorhinolaryngologic diseases ,medicine ,Nasal septum ,Humans ,Nasal Septum ,business.industry ,General Medicine ,Maxillary Sinus ,medicine.disease ,Nasal meatus ,Angiofibromas ,Ostium ,medicine.anatomical_structure ,Otorhinolaryngology ,Surgery ,Radiology ,Nasal Cavity ,Differential diagnosis ,medicine.symptom ,business - Abstract
Extranasopharyngeal angiofibroma which occurs in all head and neck regions is extremely rare. Unlike most angiofibromas which show nasal congestion and recurrent epistaxis as their symptoms, extranasopharyngeal angiofibromas (ENAF) may lead to various symptoms depending on their location. Nasal septum is the most frequent site of origin of ENAF. No study of ENAF originating in natural ostium of maxillary sinus has been reported. We present a case of 27-year-old male who has extranasopharyngeal angiofibroma arising from the natural ostium of maxillary sinus in an adult patient whose symptom was right sided nasal obstruction. With this study, although uncommon, angiofibroma should be considered as a differential diagnosis in patient with mass lesion in the middle nasal meatus.
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- 2021
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8. Bannayan‐Riley‐Ruvalcaba syndrome with gingival hyperpigmentation and facial papules
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Alexander Hicks, Sharon E. Albers, Eden M. Lyons, Jeffrey P. Zwerner, and Eva B. Niklinska
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Male ,Gingival hyperpigmentation ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Adolescent ,Genotype ,business.industry ,PTEN Phosphohydrolase ,Context (language use) ,Dermatology ,Cowden syndrome ,medicine.disease ,Angiofibromas ,Phenotype ,Bannayan–Riley–Ruvalcaba syndrome ,Hyperpigmentation ,PTEN HAMARTOMA TUMOR SYNDROME ,Pediatrics, Perinatology and Child Health ,medicine ,Humans ,Hamartoma Syndrome, Multiple ,Facial papules ,business - Abstract
One of the distinctive cutaneous manifestations of Bannayan-Riley-Ruvalcaba syndrome (BRRS), a PTEN hamartoma tumor syndrome, is penile pigmented macules. We present a 13-year-old boy with gingival hyperpigmentation along with facial and ear angiofibromas in the context of a BRRS-concordant phenotype and PTEN hamartoma tumor syndrome genotype. To our knowledge, these two findings have not been previously reported with BRRS and may expand the known phenotype of this disorder.
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- 2021
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9. Colagenomas: manifestación cutánea de neoplasia endocrina múltiple tipo 1 (MEN 1)
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Natalia Giraldo, Laura Pulgarín, Simón Gallo, Carlos Montealegre, and Alejandro Roman-González
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Pathology ,medicine.medical_specialty ,business.industry ,Collagenomas ,General Medicine ,medicine.disease ,Angiofibromas ,Cushing Disease ,medicine.anatomical_structure ,Anterior pituitary ,Female patient ,Medicine ,Endocrine system ,business ,Multiple endocrine neoplasia ,Primary hyperparathyroidism - Abstract
La neoplasia endocrina múltiple tipo 1 (MEN 1) es un síndrome hereditario raro caracterizado por la aparición de tumores de paratiroides, páncreas e hipófisis anterior, que en algunos casos se acompaña de neoplasias cutáneas benignas, como angiofibromas y colagenomas, cuya aparición puede preceder a las manifestaciones endocrinológicas. Se presenta el caso de una paciente de 23 años, en quien se diagnosticó hiperparatiroidismo primario, enfermedad de Cushing, tumor neuroendocrino de páncreas y múltiples colagenomas, que aparecieron antes de las manifestaciones hormonales.
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- 2020
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10. Facial Papules in Birt-Hogg-Dubé Syndrome: A Growing Spectrum of Pathologic Findings
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Lauren G. Yi, Richard H. Flowers, Ricardo Guerra, and Sam B. Wu
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Skin manifestations ,medicine.medical_specialty ,business.industry ,Genodermatosis ,Histology ,medicine.disease ,Dermatology ,Angiofibromas ,Birt–Hogg–Dubé syndrome ,medicine ,Folliculin Gene ,Facial papules ,business ,Novel mutation - Abstract
Birt-Hogg-Dubé syndrome is rare genodermatosis caused by a mutation in the folliculin gene. It is characterized by pulmonary cysts, renal tumors, and a variety of skin manifestations including trichodiscomas, fibrofolliculomas, less commonly reported angiofibromas, and perifollicular fibromas. These cutaneous lesions have overlapping histopathologic features. Here we report a case of a man presenting with facial papules and nonspecific histology found to have Birt-Hogg-Dubé syndrome and a novel mutation in the folliculin gene. Our aim is to raise awareness of the spectrum of associated cutaneous and pathologic findings in Birt-Hogg-Dubé syndrome, which are not all included in the diagnostic criteria.
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- 2020
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11. A Novel Case of Mammary-Type Myofibroblastoma With Sarcomatous Features
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Laura J. Tafe, Konstantinos Linos, Alexander M. Strait, and Kristen E. Muller
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Male ,0301 basic medicine ,Pathology ,medicine.medical_specialty ,DNA Copy Number Variations ,Microarray ,Breast Neoplasms, Male ,Pathology and Forensic Medicine ,Diagnosis, Differential ,Neoplasms, Muscle Tissue ,03 medical and health sciences ,0302 clinical medicine ,Biomarkers, Tumor ,medicine ,Humans ,Breast ,Mammary-Type Myofibroblastoma ,Mitosis ,Aged ,Chromosomes, Human, Pair 13 ,biology ,Retinoblastoma protein ,medicine.disease ,Neoplasms, Complex and Mixed ,Angiofibromas ,030104 developmental biology ,030220 oncology & carcinogenesis ,Spindle cell lipoma ,biology.protein ,Surgery ,Sarcoma ,Anatomy ,Myofibroblastoma - Abstract
Mammary-type myofibroblastoma (MFB) is a benign spindle cell tumor of the breast and soft tissue characterized by 13q14 alterations leading to loss of Rb-1 protein expression, a feature shared among spindle cell lipoma and cellular angiofibroma. In this article, we present a novel case of MFB arising in the left breast of a 70-year old man that microscopically showed an abrupt transition from classic MFB morphology to an area with cytologic atypia and mitotic activity, akin to sarcomatous transformation described in cellular angiofibromas. A thorough workup of the molecular underpinnings of both components using chromosomal microarray and next-generation sequencing platforms supported a clonal relationship. Nearly identical copy number changes, including a single copy loss of 13q14, were found in both components; in addition, the sarcomatous component harbored biallelic TP53 alterations. It is important for pathologists to recognize that sarcomatous features can occur in mammary-type MFB to arrive at the correct diagnosis.
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- 2020
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12. Mandibular Intraosseous Angiofibroma—A Rare Clinical Entity
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R. John Tannyhill, Ami Amini-Salari, David Y. Ahn, and Krzysztof Glomski
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medicine.medical_specialty ,business.industry ,Nasopharyngeal neoplasm ,Mandible ,Angiofibroma ,medicine.disease ,Angiofibromas ,Otorhinolaryngology ,Male patient ,Rare case ,medicine ,Surgery ,Radiology ,Oral Surgery ,business - Abstract
Angiofibromas located in the maxillofacial region are rare and almost exclusively occur in adolescent males. These benign tumors are highly vascular, locally invasive, and commonly found in the nasopharyngeal space. In the present report, we describe a very rare case of an intraosseous mandibular angiofibroma in a 23-year-old male patient with histomorphologic and molecular confirmation. This type of tumor occurring in the mandible has been reported previously only once, to the best of our knowledge.
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- 2020
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13. Safety and Efficacy of the Sirolimus Gel for TSC Patients With Facial Skin Lesions in a Long-Term, Open-Label, Extension, Uncontrolled Clinical Trial
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Hironori Niizeki, Chiharu Tateishi, Kazuyoshi Fukai, Shigeki Shimasaki, Yasuyuki Fujita, Izumi Hamada, Tatsuro Takahata, Akihiko Asahina, Yuuki Ohno, Hiroyuki Murota, Hiroo Yokozeki, Masaaki Ogai, Kenji Shimizu, Mari Wataya-Kaneda, Yuichi Yoshida, Kazue Yoshida, and Hiroshi Nagai
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medicine.medical_specialty ,Erythema ,Dermatology ,Hypomelanotic macules ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Tuberous sclerosis ,Long-term administration ,0302 clinical medicine ,Dry skin ,medicine ,Clinical endpoint ,Angiofibromas ,Adverse effect ,Acne ,Original Research ,Topical sirolimus ,business.industry ,Skin lesions ,Hypomelanotic macule ,medicine.disease ,Discontinuation ,Cephalic plaques ,Clinical trial ,Sirolimus gel ,Tuberous sclerosis complex ,RL1-803 ,030220 oncology & carcinogenesis ,medicine.symptom ,business - Abstract
Introduction Our previous clinical studies have demonstrated the short-term efficacy and safety of the sirolimus gel for patients with tuberous sclerosis complex (TSC). However, long-term clinical evidence is lacking. Our objective was to assess the safety and efficacy of long-term treatment with the sirolimus gel for the skin lesions of TSC patients. Methods We conducted a multicenter, open-label, uncontrolled clinical trial in 94 Japanese patients with TSC. Patients applied the 0.2% sirolimus gel on their face or head twice daily for > 52 weeks (maximum 136 weeks for safety). The safety endpoints were the rate of adverse event (AE)-caused discontinuation (primary endpoint) and the incidence of AEs. The efficacy endpoint was the response rate of angiofibromas, cephalic plaques, and hypomelanotic macules. Results Among 94 enrolled patients (mean age, 21 years; range 3–53 years), the rate of AE-caused discontinuation was 2.1% (2/94 patients). Although application site irritation and dry skin occurred relatively frequently, none of the drug-related AEs were serious; most of the drug-related AEs resolved rapidly. The major drug-related AEs (≥ 5% in incidence) were application site irritation (30.9%), dry skin (27.7%), acne (20.2%), eye irritation (8.5%), pruritus (8.5%), erythema (7.4%), dermatitis acneiform (6.4%), and dermatitis contact (5.3%). The response rates of angiofibromas, cephalic plaques, and hypomelanotic macules were 78.2% [95% confidence interval (CI) 68.0–86.3%], 66.7% (95% CI 51.1–80.0%), and 72.2% (95% CI 46.5–90.3%), respectively. Conclusions The gel was well tolerated for a long time by patients with TSC involving facial skin lesions and continued to be effective. Trial Registration ClinicalTrials.gov identifier: NCT02634931.
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- 2020
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14. Scleromyxedema histopathologically mimicking hypercellular fibrous papules (angiofibomas): Case report of an unusual histopathological presentation
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Viktoryia Kazlouskaya, Edward Heilman, and Neelam Khan
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medicine.medical_specialty ,Pathology ,Histology ,business.industry ,CD68 ,Mucin ,Dermatology ,Angiofibroma ,medicine.disease ,Angiofibromas ,Colloidal iron ,Pathology and Forensic Medicine ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,030220 oncology & carcinogenesis ,Scleromyxedema ,medicine ,Histopathology ,Factor XIIIa ,business - Abstract
Scleromyxedema (SMX) is an inflammatory condition of unknown etiology strongly associated with monoclonal gammopathy. Classical histopathology of SMX is characterized with the triad of diffuse mucin deposits, increased amount of collagen, and presence of stellate fibroblasts. Herein, we report an unusual histopathological variant of SMX in a 41-year-old female with lesions of the nose histopathologically mimicking cellular angiofibromas. The dome-shaped papules were characterized by increased collagen bundles and fascicles of spindle cells. Widened vessels were seen at the periphery of the proliferation. Cells expressed CD68. Factor XIIIa was expressed only by dendritic cells. The mucin was highlighted with colloidal iron. In sum, we draw attention to this unusual variant of SMX, which should be suspected in a setting of multiple "angiofibromas/fibrous papules" on the face with presence of mucin.
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- 2020
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15. Cutaneous angiofibroma: A clinching evidence for diagnostic workup of tuberous sclerosis complex
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Ashwini Kulkarni, Bhushan M. Warpe, Shweta Joshi-Warpe, and Bhagyashree P Mundhe
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Cortical tubers ,Pathology ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.diagnostic_test ,business.industry ,fungi ,face ,food and beverages ,Magnetic resonance imaging ,General Medicine ,Angiofibroma ,tuberous sclerosis complex ,lcsh:RL1-803 ,medicine.disease ,Angiofibromas ,White matter ,Tuberous sclerosis ,medicine.anatomical_structure ,angiofibroma ,Cortex (anatomy) ,Subependymal nodules ,medicine ,lcsh:Dermatology ,business - Abstract
Tuberous sclerosis complex (TSC) or Bourneville's disease is a genetic multisystem disorder of multisite hamartomas. Majority of TSC cases are sporadic. TSC typically presents in the first decade of life and has a reported incidence of 1:6000–12,000, with intracranial involvement in the form of cortical tubers or subependymal nodules. Tubers (potato-like nodules) are triangular-shaped lesions centered at the cortex/juxtacortical, with apex oriented “inward” toward the ventricles, on magnetic resonance imaging (MRI) of the brain. Tubers represent cortical glioneuronal hamartomas and consist of focal distortions in the cellular organization and morphology, which extend into the underlying (subcortical) white matter. Skin lesions with a history of seizures can be an eye-opener to diagnose angiofibromas and its variant, which can lead to further effective workup such as ophthalmoscopy and MRI of the brain to diagnose TSC, just like in our case.
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- 2020
16. Birthmark: Journey from aesthetic to unalluring
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Vikram Singh, Sakshi Sharma, Mamta Singh, and Pratiksha Hada
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lcsh:Medical physics. Medical radiology. Nuclear medicine ,medicine.medical_specialty ,Port wine ,genetic structures ,sws ,lcsh:R895-920 ,Sturge–Weber syndrome ,Glaucoma ,Epilepsy ,Age groups ,medicine ,Radiology, Nuclear Medicine and imaging ,encephalotrigeminal angiomatosis ,Birthmark ,General Dentistry ,angiofibromas ,portwine stain ,neurocutaneous ,business.industry ,Angiomatosis ,medicine.disease ,Dermatology ,tram- track calcifications ,lcsh:RK1-715 ,Otorhinolaryngology ,lcsh:Dentistry ,sense organs ,business ,psychological phenomena and processes - Abstract
Encephalotrigeminal Angiomatosis, also known as Sturge Weber Syndrome (SWS), Dimitri disease, Sturge Kalischer Weber Syndrome is specifically non familial, congenital rare disorder consisting of hamartomatous malformations that may affect eye, skin, and CNS. Failure of proper vascular development is believed to be the most likely cause of the condition. The malformed blood vessels may lead to port wine stains, epilepsy, and glaucoma depending on its location. We are presenting here a triad of case reports on Sturge Weber Syndrome representing individuals belonging to varied age groups.
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- 2020
17. A Rare Case of Angiofibroma Mimicking Fibrous Epulis in Posterior Gingival Mucosa
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Annete Nabila, Ni Putu Mira Sumarta, and Okky Prasetio
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Pathology ,medicine.medical_specialty ,medicine.diagnostic_test ,Epulis ,business.industry ,Soft tissue ,General Medicine ,Angiofibroma ,medicine.disease ,Angiofibromas ,Gingival Angiofibroma ,Biopsy ,Gingival mucosa ,medicine ,Fibrous epulis ,business - Abstract
Angiofibromas are highly vascular, locally aggressive but histologically benign tumors. A 40-year-old woman complaint of pedunculated mass in the right gingiva of the posterior region since 7 months earlier. Surgical excisional biopsy under general anesthesia was performed. Histopathological examination showed an angiofibroma. Angiofibromas are localized in the superficial soft tissue and the gingiva could have a similar clinical appearance as an epulis. Definitive diagnosis was determined through histopathological analysis.
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- 2021
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18. Juvenile Nasopharyngeal Angiofibromas: Clinico-Radiological Evaluation
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Shweta Sharma, Mir Rizwan Aziz, Bharat Bhushan Sharma, Shashi Sharma, and Akriti Sharma
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medicine.medical_specialty ,medicine.diagnostic_test ,Juvenile nasopharyngeal angiofibroma ,business.industry ,Computed tomography ,Case presentation ,medicine.disease ,Angiofibromas ,Radiological weapon ,medicine ,Vascular tumor ,Radiology ,Young adult ,Fibroma ,business - Abstract
Background: Juvenile nasopharyngeal angiofibroma (JNA) is also known as bleeding fibroma since it is highly vascular tumour.. This is a benign tumour that is locally aggressive and bleeds in prepubescent and young adults. The tumour expands due to the potential space available in the nasopharyngeal area without much of the resistance JNA requires early and accurate diagnosis by cross sectional modalities with the background setting of clinical symptomatology. This will helpful in early management and can avoid various future complications. Case Presentation: We present two cases of JNAs where the role of contrast enhanced computed tomography (CECT) is highlighted. These two examples of adolescent nasopharyngeal angiofibromas (JNAs) were diagnosed at at differing stages with the help of CECT reformatted reconstructed 3D images.. Conclusion: We lay a high value on the clinico-radiological evaluation in concluding the diagnosis. The adequate pre-operative radiological staging is required for the surgical management
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- 2021
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19. Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases
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Roberto Caputo, Renzo Guerrini, Valerio Conti, Giacomo Bacci, Francesco Mari, and Silvio Polizzi
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Male ,Fovea Centralis ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,DNA Mutational Analysis ,Visual Acuity ,Iris ,Retina ,Tuberous sclerosis ,chemistry.chemical_compound ,Tuberous Sclerosis ,Tuberous Sclerosis Complex 2 Protein ,Humans ,Medicine ,Abnormalities, Multiple ,Papilledema ,business.industry ,Retinal ,DNA ,medicine.disease ,Dermatology ,Iris coloboma ,Angiofibromas ,eye diseases ,nervous system diseases ,Coloboma ,Ophthalmology ,medicine.anatomical_structure ,chemistry ,Child, Preschool ,Mutation ,Female ,sense organs ,Neurology (clinical) ,Eyelid ,TSC1 ,medicine.symptom ,TSC2 ,business ,Tomography, Optical Coherence - Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant multisystemic disorder caused by mutations in either TSC1 or TSC2 genes and is characterized by hamartomas in multiple organs. The most frequent and best-known ocular manifestation in TSC is the retinal hamartoma. Less frequent ocular manifestations include punched out areas of retinal depigmentation, eyelid angiofibromas, uveal colobomas, papilledema, and sector iris depigmentation. In this article, we report 2 patients carrying known pathogenic variants in the TSC2 gene who exhibited an atypical, unilateral, iris coloboma associated with localized areas of retinal dysembryogenesis.
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- 2020
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20. Topical rapamycin combined with calcitriol in treating angiofibromas in tuberous sclerosis complex
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Chuan-Mo Lee
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Sirolimus ,medicine.medical_specialty ,Calcitriol ,business.industry ,Dermatology ,Angiofibroma ,medicine.disease ,Angiofibromas ,Tuberous sclerosis ,Double-Blind Method ,Tuberous Sclerosis ,medicine ,Humans ,Prospective Studies ,Facial Neoplasms ,business ,Prospective cohort study ,Facial neoplasm ,medicine.drug - Published
- 2020
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21. Use of Topical Rapamycin as Maintenance Treatment after a Single Session of Fractionated CO2 Laser Ablation: A Method to Enhance Percutaneous Drug Delivery
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Jihee Kim, Jongwook Oh, Ju Hee Lee, and Won Jai Lee
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medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Percutaneous ,CO2 laser ,medicine.medical_treatment ,Case Report ,Dermatology ,Angiofibroma ,Malignant transformation ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Tuberous sclerosis ,0302 clinical medicine ,medicine ,Sirolimus ,business.industry ,Cosmesis ,Ablation ,medicine.disease ,Angiofibromas ,Tuberous sclerosis complex ,030220 oncology & carcinogenesis ,business ,medicine.drug - Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder with an incidence of approximately 1 in 5,000 to 10,000 live births. TSC has various clinical manifestations such as multiple hamartomas in systemic organs, including the skin. Angiofibromas are the most common skin lesions in patients with TSC. Although benign, angiofibromas develop in childhood and puberty, and can be psychosocially disfiguring for patients. Skin lesions in TSC, specifically angiofibromas, have no significant risk of malignant transformation after puberty; thus, they require no treatment if not prominent. However, the presentation of TSC is important owing to its impact on patient cosmesis. Surgical treatment and laser therapy are the mainstream treatments for angiofibromas. Although the evidence is limited, topical mammalian target of rapamycin inhibitors such as sirolimus (rapamycin) are effective in facial angiofibroma treatment. We describe an adult patient with an angiofibroma who had an excellent response to treatment with topical rapamycin after a single session of carbon dioxide (CO2) laser ablation. The patient showed no sign of relapse or recurring lesions for a year. CO2 laser ablation may serve as a new paradigm of treatment for angiofibromas in TSC. Since the selection of laser devices can be limited for some institutions, we suggest a rather basic but highly effective approach for angiofibroma treatment that can be generally applied with the classic CO2 device.
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- 2019
22. Extranasopharyngeal Angiofibroma Arising from the Anterior Nasal Septum in a 35-Year-Old Woman
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Aleksandar Perić, Tarik Kujundžić, and Biserka Vukomanović Đurđević
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Nasal cavity ,Larynx ,business.industry ,Pharynx ,Anatomy ,Angiofibroma ,medicine.disease ,Angiofibromas ,medicine.anatomical_structure ,Paranasal sinuses ,Otorhinolaryngology ,medicine.artery ,otorhinolaryngologic diseases ,medicine ,Nasal septum ,Surgery ,Oral Surgery ,Sphenopalatine artery ,business - Abstract
Angiofibroma is a relatively rare vascular lesion originating predominantly in the nasopharynx and occurs typically in male adolescents. Extranasopharyngeal sites of origin, such as nasal cavity, paranasal sinuses, pharynx, and larynx, are extremely rarely seen in clinical practice. In the nasal cavity, extranasopharyngeal angiofibromas (ENAs) have been reported to originate from the nasal septum, as well as from the middle and inferior turbinate. In this study, we report a case of a 35-year-old female patient with angiofibroma originating from the anterior part of the nasal septum with left-sided nasal obstruction and mild-to-moderate epistaxis as main complaints. After the radiological diagnostics and embolization of sphenopalatine artery, we performed the excision of the lesion with removal of small part of septal mucosa and perichondrium around the attachment of tumor pedicle. Histopathological examination suggested the presence of angiofibroma and diagnosis was confirmed by immunohistochemical analysis. This is the fifth reported case of septal ENA in female population in the English-language literature.
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- 2019
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23. Tuberous Sclerosis Complex Associated Lymphangioleiomyomatosis Presenting with Spontaneous Pneumothorax and Renal Angiomyolipomas
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Shish Mohammad Sarkar, Akm Mosharraf Hossain, Manzurul Ibrahim Musa, Farjana Binte Habib, Mohammed Mirazur Rahman, and Nazmul Hasan
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medicine.medical_specialty ,Angiomyolipoma ,medicine.diagnostic_test ,business.industry ,Physical examination ,General Medicine ,medicine.disease ,Angiofibromas ,Shagreen ,Tuberous sclerosis ,medicine.anatomical_structure ,Pneumothorax ,Lymphangioleiomyomatosis ,Medicine ,Abdomen ,Radiology ,business - Abstract
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder manifested by involvement of multisystem including skin, central nervous system, heart, kidneys and eyes. Lymphangioleiomyomatosis (LAM) is also a multisystem disorder that primarily affects the lungs. We report a case of tuberous sclerosis complex associated lymphangio-leiomyomatosis (TSC-LAM) in a 26-year-old female patient who was presented with spontaneous pneumothorax and renal angiomyolipomas. In clinical examination; We found multiple angiofibromas over her face, shagreen patches over upper and lower back and ungual fibromas in both fingers and toes. HRCT of chest revealed right sided pneumothorax with multiple thin walled cysts in both lungs. Ultrasonogram (USG) and Computer Tomography (CT) scan of abdomen revealed bilateral angiomyolipomas. We managed her pneumothorax with intercostal chest tube drainage and oxygen inhalation. Bangladesh Med J. 2019 May; 48 (2): 51-54
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- 2019
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24. Topical use of mammalian target of rapamycin inhibitors in dermatology: A systematic review with meta-analysis
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Sophie Leducq, Elsa Tavernier, Bruno Giraudeau, Annabel Maruani, MethodS in Patients-centered outcomes and HEalth ResEarch (SPHERE), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR des Sciences Pharmaceutiques et Biologiques, Université de Nantes (UN)-Université de Nantes (UN), Institut National de la Santé et de la Recherche Médicale (INSERM), and Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR des Sciences Pharmaceutiques et Biologiques
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medicine.medical_specialty ,Skin Neoplasms ,[SDV]Life Sciences [q-bio] ,Port-Wine Stain ,Dermatology ,Administration, Cutaneous ,Angiofibroma ,Placebo ,law.invention ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Tuberous sclerosis ,0302 clinical medicine ,Randomized controlled trial ,Tuberous Sclerosis ,law ,medicine ,Humans ,Psoriasis ,Adverse effect ,Sirolimus ,Antibiotics, Antineoplastic ,business.industry ,TOR Serine-Threonine Kinases ,medicine.disease ,Angiofibromas ,3. Good health ,030220 oncology & carcinogenesis ,Meta-analysis ,Topical Sirolimus ,business ,medicine.drug - Abstract
Background Systemic mammalian target of rapamycin (mTOR) inhibitors are currently used in many dermatologic indications. Their topical use is recent and poorly codified. Objective To provide an overview of the topical use of mTOR inhibitors in dermatologic conditions and evaluate their efficacy and safety. Methods A literature search was performed in January 2017. Reports of all studies investigating the use of topical mTOR inhibitors in any dermatology diseases were included. The exclusion criteria were systemic use and mucosal administration. Results We included 40 studies with a total of 262 patients. In all, 11 dermatologic conditions were found, the most frequent being angiofibromas linked to tuberous sclerosis complex (157 patients). Topical mTOR inhibitors were significantly more efficient than placebo for angiofibromas (relative risk, 2.52; 95% confidence interval, 1.27-5.00; I2 = 0%). The median concentration of sirolimus was 0.1%, with a median treatment duration of 12 weeks. Topical mTOR inhibitors were well tolerated, with only mild or moderate local side effects (mostly irritative) reported. Blood level of sirolimus was not detected in 90% of patients. Limitations High heterogeneity in most studies. Conclusion This systematic review supports the efficacy of topical sirolimus for angiofibromas linked to tuberous sclerosis complex, with only local side effects reported. Other indications require further research.
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- 2019
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25. Fibrous papules on the lips
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Xiuyan Shi, Lin Ma, and Bin Zhang
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medicine.medical_specialty ,business.industry ,Mucosal lesions ,food and beverages ,Dermatology ,Angiofibroma ,medicine.disease ,Angiofibromas ,Lip ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Tuberous sclerosis ,0302 clinical medicine ,Tuberous Sclerosis ,030220 oncology & carcinogenesis ,Pediatrics, Perinatology and Child Health ,Medicine ,Humans ,In patient ,Fibrous Papule ,Presentation (obstetrics) ,Facial Neoplasms ,business - Abstract
Multiple angiofibromas are commonly found in patients with tuberous sclerosis complex. We report a rare presentation of multiple congenital fibrous papules occurring only on the lips with no syndromic associations.
- Published
- 2021
26. Folliculocystic and Collagen Hamartoma: A Subset of Fibrous Cephalic Plaque
- Author
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Kyle Norton, Anita S. Savell, and Michael R. Heaphy
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Pathology ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,business.industry ,General Engineering ,Dermatology ,tuberous sclerosis complex ,030204 cardiovascular system & hematology ,medicine.disease ,Hypomelanotic macule ,Angiofibromas ,fibrous cephalic plaque ,folliculocystic and collagen hamartoma ,Shagreen ,03 medical and health sciences ,Tuberous sclerosis ,0302 clinical medicine ,medicine ,Cutaneous hamartoma ,hamartoma ,Hamartoma ,business ,030217 neurology & neurosurgery ,Collagen hamartoma - Abstract
Tuberous sclerosis complex is known to cause a variety of cutaneous hamartomas, most commonly hypomelanotic macules, angiofibromas, shagreen patches, and fibrous cephalic plaques. In recent years, a new cutaneous hamartoma that bears physical and histological resemblance to fibrous cephalic plaque has been proposed called folliculocystic and collagen hamartoma. The primary difference between the two diagnoses is the histologic presence of infundibular cysts in the latter. However, some authors have called into question if the two diagnoses are truly distinct. In this case report, we present a patient with tuberous sclerosis complex and fibrous cephalic plaque with infundibular cysts and propose that the presence of cysts should be incorporated into the possible histologic features of fibrous cephalic plaque.
- Published
- 2021
27. Nasal septal angiofibroma: less vascular behaviour than observed in radiological imaging, a rare case in a 51-year-old woman
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C Burgess and S Law
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Nasal cavity ,medicine.medical_specialty ,Biopsy ,Nose Neoplasms ,030230 surgery ,Angiofibroma ,03 medical and health sciences ,0302 clinical medicine ,otorhinolaryngologic diseases ,medicine ,Nasal septum ,Humans ,Nasal polyps ,Nasal Septum ,Hemangiopericytoma ,Pyogenic granuloma ,business.industry ,Endoscopy ,General Medicine ,respiratory system ,Middle Aged ,medicine.disease ,Angiofibromas ,Magnetic Resonance Imaging ,Surgery ,medicine.anatomical_structure ,Online Case Report ,Female ,Differential diagnosis ,Nasal Obstruction ,business ,Tomography, X-Ray Computed - Abstract
Angiofibroma of the head and neck is classically found in the nasopharynx of an adolescent male. We present a rare case where an angiofibroma was diagnosed in the anterior nasal septum of a 51-year-old woman, the eighth nasal septal angiofibroma reported in a female. This case highlights how an angiofibroma in an older woman has a less vascular behaviour than one in an adolescent male, even though radiological enhancement may suggest that the lesion is highly vascularised. Nasal septal angiofibromas can be managed by biopsy and removed by simple endoscopic resection with minimal haemorrhage. Although very rare, extranasopharyngeal angiofibroma/nasal septal angiofibroma should be included in the differential diagnosis when patients of all ages present with nasal obstruction secondary to a nasal mass, with or without epistaxis.
- Published
- 2021
28. Tuberous Sclerosis: A Case Report and Review of the Literature
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Obed Cudjoe, Philip Narteh Gorleku, Albert Dayor Piersson, Klenam Dzefi-Tettey, and Emmanuel Kobina Mesi Edzie
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Pathology ,medicine.medical_specialty ,Dermatology ,tuberous sclerosis ,030204 cardiovascular system & hematology ,Pediatrics ,03 medical and health sciences ,Tuberous sclerosis ,0302 clinical medicine ,Subependymal nodules ,Subependymal zone ,medicine ,angiofibromas ,seizures ,Subependymal giant cell astrocytoma ,medicine.diagnostic_test ,renal angiomyolipomas ,business.industry ,subependymal giant cell astrocytoma ,General Engineering ,Genetic disorder ,food and beverages ,Magnetic resonance imaging ,medicine.disease ,medicine.anatomical_structure ,TSC1 ,TSC2 ,Radiology ,business ,030217 neurology & neurosurgery - Abstract
Tuberous sclerosis (TS) is a rare genetic disorder of autosomal-dominant inheritance. Mutations on either of the two genes Tuberous Sclerosis Complex 1 (TSC1) or Tuberous Sclerosis Complex 2 (TSC2) play a role and result in hamartomas involving many organs, like the brain, heart, kidneys, skin, lungs, and liver. This case report is about a four-year-old boy with facial angiofibromas, hypo-pigmented skin lesions on the lower back and dorsum of the right wrist, and previous history of seizures who was referred to the radiology department of the Korle Bu Teaching Hospital for Magnetic Resonance Imaging (MRI) of the brain. The MRI of the brain revealed subependymal giant cell astrocytomas, subependymal nodules, and cortical tubers. Ultrasonography of the abdomen also showed multiple angiomyolipomas and multiple simple cysts in both kidneys. The aim of this case report is to present the imaging findings and create awareness that this rare genetic disorder does exist in Ghana and advocate for formation of support groups for parents with children with tuberous sclerosis.
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- 2021
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29. Miliary fibromas in tuberous sclerosis complex
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A M Cartron, D Buccine, Thomas N. Darling, A.M. Treichel, Joel Moss, and Chyi-Chia Richard Lee
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0301 basic medicine ,Adult ,Pathology ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Dermatology ,Fibroma ,Angiofibroma ,Article ,Shagreen patch ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Tuberous sclerosis ,0302 clinical medicine ,Tuberous Sclerosis ,medicine ,otorhinolaryngologic diseases ,Hamartoma ,Nevus ,Humans ,Retrospective Studies ,business.industry ,medicine.disease ,Angiofibromas ,Shagreen ,030104 developmental biology ,Infectious Diseases ,business - Abstract
Background Tuberous sclerosis complex (TSC) is a hamartoma syndrome characterized by multiple skin lesions, such as angiofibromas, shagreen patch and miliary fibromas (MiF). Objective To determine the clinical and histological features of MiF. Methods A retrospective analysis was conducted on 133 adults with TSC. Photography was used to characterize the appearance and location of MiF. Histological features in five skin samples from four individuals were evaluated by a board-certified dermatopathologist. Results MiF were observed in 19 of 133 (14%) individuals with TSC. MiF were 1- to 3-mm skin-coloured, sessile papules scattered on the back and rarely buttocks or thighs. Most were scattered in a bilaterally symmetric distribution, but others were asymmetric or associated with a shagreen patch. Histological features of MiF included expansion of the papillary and periadnexal dermis with variable hamartomatous abnormalities involving adjacent epithelial components. Conclusions MiF are distinct from other cutaneous lesions in TSC such as shagreen patches and angiofibromas. Recognition of this entity is important in defining the spectrum of TSC disease and reassuring individuals with TSC that these lesions are benign.
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- 2020
30. Uncommon presentations of angiofibroma in sinonasal tract: a two-case report/ Apresentações incomuns de angiofibromas no trato nasossinusal: relato de dois casos
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Regiane Matos Batista, Luigi Ferreira e Silva, Diego Gadelha Vaz, Ana Larisse Godim Barbosa, Leonardo Mendes Acatauassu Nunes, and Luísa Corrêa Janaú
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Frontal sinus ,medicine.medical_specialty ,Meatus ,Maxillary sinus ,Juvenile nasopharyngeal angiofibroma ,business.industry ,juvenile nasopharyngeal angiofibroma, JNA, extranasopharyngeal angiofibroma, ENPA, endoscopic surgery ,General Medicine ,Sinonasal Tract ,Angiofibroma ,medicine.disease ,Angiofibromas ,Surgery ,JNA ,juvenile nasopharyngeal angiofibroma ,ENPA ,medicine.anatomical_structure ,endoscopic surgery ,otorhinolaryngologic diseases ,medicine ,extranasopharyngeal angiofibroma ,business ,Sinus (anatomy) - Abstract
Juvenile nasopharyngeal angiofibroma (JNA) are rare, histologically benign, but locally aggressive, vascular tumors of the nasopharynx that affects predominantly male adolescents, its origins from other sites is denominated extranasopharyngeal angiofibroma (ENPA), which is an even rarer entity afflicting more females and young adults, representing a diagnostic and therapeutic challenge to rhinologists. In this report we present 2 cases of similar clinical presentation, with unilateral nasal obstruction and previous episodes of nasal bleeding. One patient is a 14-year-old male with a soft-tissue mass occupying nasopharynx, middle meatus, and right nasal cavity. The second patient is a 12-year-old male with a soft-tissue lesion rising from right sphenoid sinus and obliterating right nasal cavity, obstructing ipsilateral maxillary sinus, ethmoidal cells, and frontal sinus. Both patients underwent complete endoscopic excision of the lesions, the first one recurred on sphenoid sinus and the second showed no recurrence after 2 years of post-operative follow-up. The unusual sites and presentations make these rare cases and thus worth of reporting.
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- 2020
31. Novel Modifications to Total Maxillary Swing Approach in Extensive Nasopharyngeal Angiofibroma to Minimize Complications
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Manu Malhotra, Amit Kumar Tyagi, Arpana Singh, Saurabh Varshney, Madhu Priya, and Abhishek Bhardwaj
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Infraorbital margin ,medicine.medical_specialty ,business.industry ,Osteomyelitis ,Nasopharyngeal neoplasm ,medicine.disease ,Angiofibromas ,Surgery ,03 medical and health sciences ,0302 clinical medicine ,medicine.anatomical_structure ,Otorhinolaryngology ,Nasopharyngeal angiofibroma ,030220 oncology & carcinogenesis ,medicine ,Malocclusion ,030223 otorhinolaryngology ,Abscess ,business - Abstract
Maxillary swing approaches provide excellent exposure of the anterior, mid, and anterolateral skull base offering a wide window to approach nasopharyngeal neoplasms; however, they are also associated with complications. The present study aimed to evaluate the results of a modified total maxillary swing (TMS) approach developed to minimize postoperative complications. The modified TMS approach was used to treat five patients who had extensive juvenile nasopharyngeal angiofibromas between March and October 2019 at our tertiary care center. Surgical technique, preoperative image findings, and intra-operative findings were recorded. In the postoperative follow-up, patients were examined to rule out all possible complications associated with the procedure according to the literature. A retrospective analysis was performed to assess tumor extensions, surgical modifications, and postoperative complications. All tumors had orbital and infratemporal (lateral limit) involvement while four had intracranial involvement. No per-operative complications were reported, and postoperative clinical and endoscopic evaluation was performed at 1, 2, and 3 months. There was no evidence of complications including residue, recurrence, maxillary necrosis, ophthalmoplegia, epiphora, palatal fistula, or jaw malocclusion. Besides, minor complications such as infraorbital margin skin retraction, infraorbital serous collection, maxillo-zygomatic abscess, and unsightly scar were also not seen. Only one case presented with maxillary osteomyelitis which was resolved with mini-plate removal and antibiotics. A modified TMS approach is a prudent option to ensure complete removal of juvenile nasopharyngeal angiofibromas with negligible complications.
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- 2020
32. Management of a Patient with Tuberous Sclerosis with Urological Clinical Manifestations
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Victor Emanuel Stoenescu, Vlad Pădureanu, Octavian Dragoescu, Tomescu P, Radu Cristian Cimpeanu, Dop Dalia, Ionica Pirici, Alexandru Radu Mihailovici, and Rodica Pădureanu
- Subjects
medicine.medical_specialty ,Kidney ,Medicine (General) ,business.industry ,angiomyolipomatosis ,Ultrasound ,Case Report ,General Medicine ,tuberous sclerosis ,uretero-hydronephrosis ,medicine.disease ,Skull ,Left Lumbar Region ,Tuberous sclerosis ,medicine.anatomical_structure ,R5-920 ,medicine ,Dysuria ,Radiology ,medicine.symptom ,Presentation (obstetrics) ,business ,Pelvis ,angiofibromas - Abstract
The tuberous sclerosis complex (TSC) is highly variable as far as its clinical presentation is concerned. For the implementation of appropriate medical surveillance and treatment, an accurate diagnosis is compulsory. TSC may affect the heart, skin, kidneys, central nervous system (epileptic seizures and nodular intracranial tumors—tubers), bones, eyes, lungs, blood vessels and the gastrointestinal tract. The aim of this paper is to report renal manifestations as first clinical signs suggestive of TSC diagnosis. A 20-year-old patient was initially investigated for hematuria, dysuria and colicky pain in the left lumbar region. The ultrasound examination of the kidney showed bilateral hyperechogenic kidney structures and pyelocalyceal dilatation, both suggestive of bilateral obstructive lithiasis, complicated by uretero-hydronephrosis. The computer tomography (CT) scan of the kidney showed irregular kidney margins layout, undifferentiated images between cortical and medullar structures, with non-homogenous round components, suggestive of kidney angiomyolipomas, bilateral renal cortical retention cysts, images of a calculous component in the right middle calyceal branches and a smaller one on the left side. The clinical manifestations and imaging findings (skull and abdominal and pelvis CT scans) sustained the diagnosis.
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- 2020
33. The Efficacy of Everolimus for Facial Angiofibromas in Tuberous Sclerosis Complex Patients Treated for Renal Angiomyolipoma/Subependymal Giant Cell Astrocytoma
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Meng-Hsuan Wu, Shuo-Yan Gau, Chang-Ching Wei, Jeng-Dau Tsai, Chi-Tang Wu, Yue-Ting Wu, and Yu-Ping Hsiao
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Adult ,Male ,medicine.medical_specialty ,Erythema ,Adolescent ,Angiomyolipoma ,Antineoplastic Agents ,Dermatology ,Astrocytoma ,Angiofibroma ,Lesion ,Tuberous sclerosis ,Young Adult ,Tuberous Sclerosis ,medicine ,Humans ,Everolimus ,Child ,Retrospective Studies ,Subependymal giant cell astrocytoma ,business.industry ,medicine.disease ,Angiofibromas ,Kidney Neoplasms ,medicine.anatomical_structure ,Forehead ,Female ,medicine.symptom ,Facial Neoplasms ,business ,medicine.drug - Abstract
Background: Facial angiofibromas may be present since early childhood in individuals with tuberous sclerosis complex (TSC), causing substantial cosmetic disfigurement. Current therapies are partially effective, but they are uncomfortable, produce scarring, and are especially expensive. Objective: The aim of the present study was to evaluate the efficacy of oral everolimus for TSC-associated angiofibromas. Methods: This retrospective study included TSC patients being treated with oral everolimus for subependymal giant cell astrocytomas (SEGAs) and angiomyolipomas (AMLs). We recorded the changes in facial angiofibromas. Changes in the Angiofibroma Grading Scale (AGS) indicators were recorded according to erythema, average lesion size, lesion density, and percent involvement on the forehead, nose, cheeks, and chin. The scores were recorded before and after the administration of oral everolimus. Results: Twenty-one patients being treated with oral everolimus were enrolled in this study. The mean age was 20.5 years (range 11–44 years, 4 males, and 17 females). The mean dose of oral everolimus was 3.6 mg/day. Clinically meaningful and statistically significant improvement was observed in erythema (p = 0.001), average lesion size (p < 0.001), lesion density (p < 0.001), and percent involvement (p < 0.001). Changes in the AGS findings were statistically significant on the forehead (p = 0.001), nose (p < 0.001) cheeks (p < 0.001), and chin (p = 0.004). Conclusion: Everolimus shows evident improvement and is approved for TSC-associated SEGAs and AMLs. The current study demonstrated the efficacy of oral everolimus in reducing facial angiofibromas, showing the parallel benefits of the treatment protocol for TSC.
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- 2020
34. Lady with seizure and skin lesions
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Abheek Sil and Avik Panigrahi
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medicine.medical_specialty ,business.industry ,gingival fibroma ,tuberous sclerosis ,General Medicine ,Images in Medicine ,medicine.disease ,Angiofibromas ,Dermatology ,Tuberous sclerosis ,Epilepsy ,ash-leaf macule ,Ungual fibroma ,Gingival fibroma ,medicine ,epilepsy ,business ,Skin lesion ,ungual fibroma - Published
- 2020
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35. Extranasopharyngeal Angiofibroma: A Diagnostic Dilemma
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Shashikant Anil Pol, Nitin Gupta, Vaibhav Saini, Arjun Dass, and Lovekesh Mittal
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medicine.medical_specialty ,Extranasopharyngeal angiofibroma ,Soft palate ,diagnosis ,diagnostic imaging ,business.industry ,Stridor ,Diagnostic dilemma ,Angiofibroma ,lcsh:Otorhinolaryngology ,medicine.disease ,lcsh:RF1-547 ,Dysphagia ,Angiofibromas ,extranasopharyngeal ,medicine.anatomical_structure ,angiofibroma ,classification ,Nasal septum ,Medicine ,Radiology ,medicine.symptom ,business - Abstract
Objective: To report two cases of extranasopharyngeal angiofibroma, highlighting the diagnostic challenges involved. Methods: Design: Case Report Setting: Tertiary Teaching Hospital and Medical School Patients: Two (2) Results: A 13-year-old boy who presented with epistaxis and a vascular mass on the posterior nasal septum that enhanced on contrast-enhanced computed tomography (CECT), and a 3-year-old boy who presented with dysphagia and mild respiratory difficulty, with a large naso-oropharyngeal mass arising from the soft palate on physical and x-ray examination that could not be corroborated because stridor developed during sedation for CECT, both underwent endoscopic tumor excision. Conclusion: As illustrated in these cases, atypical presentations of extranasopharyngeal angiofibromas can pose a considerable diagnostic and surgical challenge for clinicians. Key words: angiofibroma: classification; diagnosis; diagnostic imaging; extranasopharyngeal
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- 2018
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36. Morbidity and Volumetric Progression in Juvenile Nasopharyngeal Angiofibroma in a Long-Term Follow-Up
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Marc Mosimann, Lorenz Epprecht, David Holzmann, Domenic Vital, University of Zurich, and Epprecht, Lorenz
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medicine.medical_specialty ,Long term follow up ,Juvenile nasopharyngeal angiofibroma ,Clinical Neurology ,610 Medicine & health ,10045 Clinic for Otorhinolaryngology ,morbidity ,Asymptomatic ,follow ,endoscopic surgery ,03 medical and health sciences ,0302 clinical medicine ,medicine ,infratemporal approach ,Risk factor ,030223 otorhinolaryngology ,up ,medicine.diagnostic_test ,business.industry ,Magnetic resonance imaging ,Angiofibroma ,medicine.disease ,Angiofibromas ,2728 Neurology (clinical) ,angiofibroma ,030220 oncology & carcinogenesis ,Radiological weapon ,Neurology (clinical) ,Radiology ,medicine.symptom ,business - Abstract
Objective We compare the open and transnasal approaches for the excision of juvenile nasopharyngeal angiofibromas regarding the rate of morbidity, and residual tumor and its symptomatic recurrence over time. In addition, we present volumetric measurements of juvenile nasopharyngeal angiofibromas over time. Methods All surgically treated patients of our institution were reviewed back to 1969 for type of surgery, residual tumor by magnetic resonance imaging (MRI)-based volumetry, recurrence, and morbidity. We performed a prospective clinical and radiological follow-up on reachable patients. Results In total, 40 patients were retrievable from our records. We were able to follow up on 13 patients after a mean of 15.7 years since surgery (range: 1–47 years). Patients operated by the open approach had a higher rate of postoperative complications and thus a higher morbidity than endoscopic patients (4/4 vs 3/9; p = 0.007), although tumor sizes were equal among groups (p = 0.12). Persisting tumor was noted in 3/4 and 4/9 (p = 0.56) patients, respectively. The corresponding mean volumes of residual tumors were 16.2 ± 14.4 cm3 and 10.8 ± 6.6 cm3 (p = 0.27). No progression could be noted in endoscopically treated patients (p = 0.24, mean time between scans 2 years). Conclusions Our analysis shows that the endoscopic approach results in less morbidity. The open approach does not guarantee freedom from persisting tumor tissue. Age seems to be a most important risk factor for the conversion of an asymptomatic persistence into a symptomatic recurrence.
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- 2018
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37. Tuberous sclerosis complex: an opportunistic diagnosis
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Teresa Martins Mendes, Diana Pereira Anjos, Liliana Torres, and Mari Mesquita
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Pediatrics ,medicine.medical_specialty ,lcsh:Internal medicine ,business.industry ,lcsh:R ,lcsh:Medicine ,medicine.disease ,Delayed diagnosis ,Medical care ,Multisystem disease ,Tuberous sclerosis ,Tubérculos ,Increased risk ,Clinical history ,Ischemic stroke ,Organ involvement ,Medicine ,Angiofibromas ,business ,lcsh:RC31-1245 - Abstract
Tuberous sclerosis complex (TSC) is a rare genetic multisystem disease that involves brain, skin, kidneys, eyes and lungs. It typically presents during childhood with facial adenomas, seizures and mental retardation and its diagnosis is mainly clinical. We report a case of 68-year-old man that sought medical care due to a transient ischemic stroke. The past clinical history and physical observation showed symptoms and signs of TSC. An extend imagiological study allowed for a complete assessment of organ involvement. A delayed diagnosis places adults at increased risk for morbidity and mortality and therefore, clinicians must be familiar with the full spectrum of TSC-associated diagnostic features.
- Published
- 2019
38. 12/1/2017 State-of-the-art lasers and light treatments for vascular lesions: from red faces to vascular malformations
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Brent C. Martin, Manuel Valdebran, and Kristen M. Kelly
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medicine.medical_specialty ,business.industry ,medicine.medical_treatment ,food and beverages ,030208 emergency & critical care medicine ,Photodynamic therapy ,Dermatology ,Intense pulsed light ,medicine.disease ,Angiofibromas ,Hemangioma ,030207 dermatology & venereal diseases ,03 medical and health sciences ,0302 clinical medicine ,Rosacea ,Granuloma ,medicine ,Intense Pulsed Light Therapy ,Surgery ,Birthmark ,business - Abstract
Notable milestones in the treatment of vascular lesions have been achieved over the past century. Many cutaneous vascular lesions can be successfully treated with lightbased devices. In this review, we will discuss the treatment of port-wine birthmarks, lymphatic malformations, infantile hemangiomas, rosacea, venous lakes, pyogenic granulomas, cherry angiomas, and angiofibromas using lasers, total reflection amplification of spontaneous emission of radiation, intense pulsed light, and photodynamic therapy. In addition, for several of these diagnoses, we will review medical therapies that can be combined with light-based devices to provide enhanced results.
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- 2017
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39. Tuberous sclerosis complex with sub-ependymal giant cell astrocytomas
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Shehla Iftikhar, Iftikhar Ahmad, Hina Manzoor, Khushnaseeb Ahmad, and Imran Masoud Qasmi
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Cultural Studies ,congenital, hereditary, and neonatal diseases and abnormalities ,Linguistics and Language ,History ,Pathology ,medicine.medical_specialty ,Hamartoma ,medicine.medical_treatment ,lcsh:RC254-282 ,Language and Linguistics ,Shagreen patch ,03 medical and health sciences ,Tuberous sclerosis ,0302 clinical medicine ,Subependymal nodules ,Subependymal zone ,Foramen ,Medicine ,Angiofibromas ,Craniotomy ,business.industry ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Hypomelanotic macule ,medicine.disease ,Tuberous sclerosis complex ,Giant cell ,030220 oncology & carcinogenesis ,Anthropology ,business ,030217 neurology & neurosurgery ,Subependymal giant cell astrocytoma - Abstract
Tuberous sclerosis complex (TSC) is a rare autosomal disorder that typically affects children. The manifestations of TSC include development of benign lesions in various organs, primarily in the brain, skin, kidneys, heart, and lungs. TSC management often involves multidisciplinary specialties. Herein, we present a case of a 5-year-old male patient who presented with a headache, vomiting and fever. Radiological assessment demonstrated a lobulated enhancing tumor in the right lateral ventricle near the foramen of Monro for which he underwent craniotomy (total tumor resection), which turned out to be subependymal giant cell astrocytomas upon histopathological examination. A follow-up MRI after 10 months showed cortical dysplasias, with tiny subependymal nodules. Dermatology examination revealed hypomelanotic macules, angiofibromas and shagreen patch. At his one-year follow-up, the patient exhibited normal mental and physical growth. Therefore, calling attention to TSC diagnosis and management depending upon the particular presentation may improve the quality of life of TSC patients.
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- 2017
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40. Nasopharyngeal Angiofibroma: Paradigm Shift in Management
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Rafiq Ahmad Pampori, Manzoor A Latoo, Waqar Ul Hamid, Aleena Shafi Jallu, and Mudasir ul Islam
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medicine.medical_specialty ,business.industry ,medicine.disease ,Angiofibromas ,Work-up ,Management algorithm ,Surgery ,03 medical and health sciences ,0302 clinical medicine ,Otorhinolaryngology ,Blood loss ,Nasopharyngeal angiofibroma ,030220 oncology & carcinogenesis ,Open Resection ,Medicine ,Original Article ,Presentation (obstetrics) ,030223 otorhinolaryngology ,business - Abstract
To report on a series of patients of nasopharyngeal angiofibroma of varied ages with different stages and management algorithm which reduced morbidity associated with this tumour. Retrospective. We report a series of ten patients who presented to a tertiary care institution and were diagnosed to have NA from 2012 to 2014. Patients were categorized by Radkowski staging and data was collected to document differences in terms of presentation, operative technique, and postoperative course. All patients underwent preoperative embolization. Stage I and selected stage II lesions were approached endoscopically while the remainder underwent open resection. In comparison with open procedures, endoscopic procedures had less intraoperative blood loss (350 vs. 630 cc), operative time (90 vs. 150 min) and the average hospital stay was one day less (3 vs. 4 days). Proper preoperative work up including nonsurgical intervention in the form of embolisation and selecting proper surgical approach is rewarding in case of angiofibromas of all stages which help to reduce morbidity associated with these benign tumours.
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- 2017
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41. Topical sirolimus for the treatment of angiofibromas in tuberous sclerosis
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Ayşe Kaçar Bayram, Ayten Ferahbaş, Demet Kartal, Salih Levent Çinar, Murat Borlu, Hüseyin Per, and Mehmet Canpolat
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Male ,medicine.medical_specialty ,Administration, Topical ,Dermatology ,tuberous sclerosis ,Angiofibroma ,Vaseline ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Tuberous sclerosis ,0302 clinical medicine ,medicine ,lcsh:Dermatology ,Humans ,Single-Blind Method ,Angiofibromas ,Prospective Studies ,Prospective cohort study ,Child ,Sirolimus ,Antibiotics, Antineoplastic ,Cross-Over Studies ,topical sirolimus ,business.industry ,lcsh:RL1-803 ,medicine.disease ,Surgery ,Infectious Diseases ,Treatment Outcome ,Tolerability ,Itching ,Topical Sirolimus ,Female ,medicine.symptom ,business ,030217 neurology & neurosurgery ,medicine.drug - Abstract
Background: The skin is one of the most affected organs in tuberous sclerosis complex and angiofibromas are seen in almost 80% of such patients. These benign tumors impose a great psycho-social burden on patients. Objective: The aim of the study was to evaluate the effectiveness and tolerability of topical sirolimus for facial angiofibromas in patients with tuberous sclerosis complex. Methods: This was a prospective, single-blinded, cross-over study which involved twelve patients. We investigated the effect and safety of topical 0.1 % sirolimus, which was obtained by crushing sirolimus tablets and mixing it with petrolatum. The patients were asked to apply the cream to one side of their face, and vaseline to the other side. The effect of topical sirolimus was evaluated using the "facial angiofibroma severity index." Results: There was a significant improvement in the redness and extension of the tumors on the sides to which the active ingredient was applied. Some side effects such as itching and irritation occurred in three patients, which were treated with topical hydrocortisone cream. Conclusion: Topical sirolimus appears to be a promising, fairly well tolerated treatment for facial angiofibromas in patients with tuberous sclerosis complex. Although its efficacy diminishes with time, repetitive usage is effective.
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- 2017
42. A 28-Year-Old Male Patient with Nail Tumors, Skin Lesions, and Epilepsy
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Bernard A. Zonnenberg, Juliette M J Spitzer-Naaijkens, Deepak M.W. Balak, Mieke M Hulshof, and Dermatology
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Pathology ,medicine.medical_specialty ,congenital, hereditary, and neonatal diseases and abnormalities ,Single Case ,Dermatology ,Shagreen patch ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Tuberous sclerosis ,0302 clinical medicine ,Biopsy ,Ungual fibroma ,medicine ,lcsh:Dermatology ,Angiofibromas ,neoplasms ,Ungual ,medicine.diagnostic_test ,business.industry ,Topical rapamycin ,Papule ,lcsh:RL1-803 ,medicine.disease ,nervous system diseases ,medicine.anatomical_structure ,Tuberous sclerosis complex ,Nail (anatomy) ,Differential diagnosis ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of benign hamartomas in multiple organs. Most patients with TSC exhibit cutaneous manifestations. Methods: We report a 28-year-old patient with multiple pink papules at the proximal nail fold of several toes. Results: Histopathological analysis of a biopsy of a papule was consistent with an ungual fibroma. Histopathological analysis of a biopsy of an elevated skin-colored plaque at the lower back was diagnostic for a Shagreen patch. These findings were consistent with a clinical diagnosis of TSC. This patient was subsequently referred to a multidisciplinary TSC clinic for further screening, which revealed a giant cell astrocytoma and multiple subependymal tubers. Annual monitoring was recommended. The skin lesions were treated with topical rapamycin ointment. Conclusions: Recognizing dermatological manifestations of TSC is of importance to allow early diagnosis. TSC should be considered as a differential diagnosis in the case of ungual fibromas, even in older patients.
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- 2017
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43. Massive Angiomatous Nasal Polyp Mimicking Nasopharyngeal Angiofibroma
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Ankur Gupta, Anukaran Mahajan, and Neena Chaudhary
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Nasal cavity ,medicine.medical_specialty ,Clinical Report ,Juvenile nasopharyngeal angiofibroma ,business.industry ,Anosmia ,respiratory system ,Unilateral Nasal Obstruction ,medicine.disease ,Angiofibromas ,03 medical and health sciences ,0302 clinical medicine ,medicine.anatomical_structure ,Otorhinolaryngology ,Nasopharyngeal angiofibroma ,030220 oncology & carcinogenesis ,otorhinolaryngologic diseases ,medicine ,Surgery ,Nasal polyps ,Radiology ,medicine.symptom ,030223 otorhinolaryngology ,business - Abstract
Angiomatous Nasal polyps is the rarest entity amongst the various types of nasal polyps known. It presents as mass filling the nasal cavity with extensions into surrounding structures; patients often presenting with symptoms of nasal obstruction and epistaxis, thus, mimicking nasal angiofibromas or malignancies. Here, we present a case of 16-year-old male, with complaints of unilateral nasal obstruction, intermittent epistaxis, anosmia, headache, ipsilateral epiphora and facial swelling. Further examination and investigations favoured a diagnosis of an angiomatous polyp with extension into surrounding structures. Surgical excision was carried out. Histopathological studies on the excised specimen were in line with the preoperative diagnosis. The patient remains disease free at a follow of 1 year.
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- 2018
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44. Early Sirolimus Gel Treatment May Diminish Angiofibromas and Prevent Angiofibroma Recurrence in Children With Tuberous Sclerosis Complex
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Tohru Okanishi, Ayataka Fujimoto, Hideo Enoki, and Masaaki Ogai
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medicine.medical_specialty ,early treatment ,tuberous sclerosis complex ,030207 dermatology & venereal diseases ,03 medical and health sciences ,Tuberous sclerosis ,0302 clinical medicine ,Fibrous plaque ,medicine ,fibrous plaque ,030212 general & internal medicine ,Original Research ,lcsh:R5-920 ,business.industry ,General Medicine ,Angiofibroma ,medicine.disease ,Angiofibromas ,Dermatology ,hypopigmented macules ,sirolimus ,angiofibroma ,Color changes ,Sirolimus ,Hypopigmented macules ,Medicine ,Topical Sirolimus ,business ,lcsh:Medicine (General) ,medicine.drug - Abstract
Introduction: Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous disorder. Angiofibromas (AF), fibrous plaques, and hypopigmented macules are the major skin findings in TSC. Topical sirolimus reduces the volume and redness of AF and other skin findings. However, the efficacy of early intervention and long-term treatment remains to be clarified. We investigated the efficacy of sirolimus gel for AF in children with TSC. Methods: We recruited nine children (five boys; four girls) with TSC and AF. We used 0.2% sirolimus gel over 6 months. We reviewed each patient's medical records and photographs for clinical information and data related to improvements in skin lesions. We evaluated the size of AF, fibrous plaques, and color changes in AF and hypopigmented macules. Results: Age at the initiation of treatment ranged from 3.5 to 11.0 years. The follow-up period ranged from 6 to 36 months (≥24 months in 3 children). Patients presented with papular AF (9), miliary AF (8), AF redness (9), fibrous plaques (5), and hypopigmented macules (2). After 6 months of treatment, improvement of AF size and redness was seen in all nine patients. Patients treated for ≥24 months showed significant decrease in AF size that persisted until the final follow-up. Gradual improvement in fibrous plaques was observed, and marked reduction in size was achieved by 4–18 months. Conclusion: Early sirolimus gel intervention is effective for the treatment of AF and fibrous plaques in children with TSC. Early intervention with sirolimus gel may maintain the skin at near-normal levels in patients with TSC.
- Published
- 2019
45. Angiofibroma of the Vagina Presenting with Abnormal Vaginal Bleeding: A Case Report from Ethiopia and Review of the Literature
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Chuchu Arega, Jose Manuel Sanchez Diaz, and Wubshet Girma
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medicine.medical_specialty ,business.industry ,Obstetrics and Gynecology ,Myoma ,Case Report ,Angiofibroma ,medicine.disease ,lcsh:Gynecology and obstetrics ,Angiofibromas ,Dermatology ,Vulva ,Benign tumor ,03 medical and health sciences ,0302 clinical medicine ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,Vagina ,medicine ,Vaginal bleeding ,medicine.symptom ,business ,Cervix ,lcsh:RG1-991 ,030217 neurology & neurosurgery - Abstract
Background. Angiofibroma is an uncommon type of vascular benign tumor that is made up of blood vessels and fibrous (connective) tissue. First described in 1997, it usually occurs in middle aged females and is clinically often thought to represent a cyst. Unlike most of the other site specific vulvovaginal mesenchymal lesions, cellular angiofibroma has a marked predilection for the vulva with only occasional examples reported in the vagina. Case Detail. A 17-year adolescent nulligravid girl presented with a history of irregular vaginal bleeding of two-year duration and history of lower abdominal swelling; on examination, she had pale conjunctiva, 20-week sized firm, irregular, nontender abdominopelvic mass, and a firm huge anterior vaginal wall mass, with difficulty to reach at the cervix and hemoglobin of 9.7 gm/dL, and a diagnosis of cervical myoma plus anemia was made, which was supported by imaging studies. Finally it was found to be angiofibroma of the vagina. Conclusion. Angiofibromas are benign tumors, which rarely occur in vagina. Although middle aged females are affected more, angiofibromas can affect females of reproductive age group and can cause abnormal uterine bleeding.
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- 2019
46. Nasal septum angiofibroma: A rare condition with an unusual onset
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Cristiana Bellan, Francesca D'Amico, Manuela Cirami, Chiara Mezzedimi, Ilaria Innocenti Paganelli, and Maria Carla Spinosi
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medicine.medical_specialty ,Nasal septum ,Nostril ,medicine.medical_treatment ,Case Report ,Angiofibroma ,Nasal fossa ,Epistaxis ,Lesion ,03 medical and health sciences ,0302 clinical medicine ,otorhinolaryngologic diseases ,medicine ,In patient ,030223 otorhinolaryngology ,business.industry ,030206 dentistry ,medicine.disease ,Angiofibromas ,Surgery ,medicine.anatomical_structure ,Cauterization ,Oral Surgery ,medicine.symptom ,business - Abstract
The characteristics of extra-nasopharyngeal angiofibromas tend to be different from angiofibromas of the nasopharynx according to patient gender, patient age, prevalence, affected site, pathogenesis, and clinical and epidemiological features. We report a case of an extra-nasopharyngeal angiofibroma in a 28-year-old man referred to the ENT Clinic for right-sided epistaxis, airflow impairment and nasal swelling. The right nostril was completely occluded works by a reddish-yellow mass that bled easily. The computed tomography scan revealed an “inhomogeneous solid lesion in the nasal fossa”. With the patient under general anesthesia, the formation in the anterior portion of the right side of the nasal septum was removed up to its vascular base. Although electrical cauterization efficiently controlled the bleeding, we abraded the sub-perichondral area to prevent further bleeding as well as recurrence. The histological exam report confirmed the diagnosis of angiofibroma. As in our case, epistaxis is commonly the presenting sign of angiofibroma. Yet its onset was peculiar, given that the bleeding started with a low impact trauma. The nasal swelling was also a relevant feature as well as the breathing impairment. Although uncommon, nasal septal angiofibromas should considered in patients with epistaxis.
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- 2019
47. Spectacular Effect of Massive Facial Angiofibromas Removal With a Carbon Dioxide Laser as a Manifestation of a Tuberous Sclerosis Complex
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Katarzyna Chyl-Surdacka, Monika Turska, and Adam Borzęcki
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medicine.medical_specialty ,Co2 laser ,business.industry ,Facial angiofibromas ,Urology ,medicine.medical_treatment ,Treatment options ,Case Report ,Dermatology ,Carbon dioxide laser ,medicine.disease ,Angiofibromas ,Chin ,Tuberous sclerosis ,medicine.anatomical_structure ,Nephrology ,medicine ,Dentistry (miscellaneous) ,Orthopedics and Sports Medicine ,Surgery ,Local anesthesia ,business - Abstract
Introduction: Tuberous sclerosis complex (TSC) is a rare, genetic disease which leads to neurological, cardiological, nephrological, ophthalmic, pulmonary and skin disorders. Case Presentation: Here, we describe a case of a 64-year-old man with the presence of giant angiofibromas located on his chin and nasolabial folds which caused inconvenience and unaesthetic appearance. All angiofibromas were removed with the use of a CO2 laser. The patient was extremely satisfied with the obtained result. No side effects were observed after a 6-month follow-up. Conclusion: Despite the fact that giant facial angiofibromas may be troublesome not only for patients but also for medical doctors, adequate CO2 laser usage with local anesthesia and control of massive bleeding is a promising treatment option for patients with TSC.
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- 2021
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48. Transperineal excision of a sizeable angiofibroma of the ischiorectal fossa. A case report
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Kalliopi Dampala, Iakovos Theodoulidis, Sofia Tsiapakidou, Themistoklis Mikos, Costas P Spanos, and Grigoris F. Grimbizis
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medicine.medical_specialty ,RD1-811 ,Ischiorectal fossa tumor ,Angiofibroma ,Perineum ,Malignancy ,Article ,Vulva ,03 medical and health sciences ,0302 clinical medicine ,Bartholin's cyst ,medicine ,030212 general & internal medicine ,Rhabdomyosarcoma ,Ischiorectal Fossa ,Mesenchymal tumor ,030219 obstetrics & reproductive medicine ,medicine.diagnostic_test ,business.industry ,Obstetrics and Gynecology ,Magnetic resonance imaging ,Gynecology and obstetrics ,medicine.disease ,Angiofibromas ,medicine.anatomical_structure ,RG1-991 ,Surgery ,Radiology ,business - Abstract
Cellular angiofibroma is a recently described rare benign soft-tissue tumor more commonly presenting in middle-aged women, often mimicking malignancy. The vulva is most common location. Complete local excision is the best curative treatment and usually there is no recurrence after surgery. We describe a 49-year-old woman with a painless tumor in the left ischiorectal fossa. It was a random finding in a routine computed tomography (CT) scan after resection of ear melanoma 3 years previously. Ultrasonography showed a solid mass, and further magnetic resonance imaging (MRI) suggested a rhabdomyosarcoma. Altogether, these findings indicated malignant disease. An uncomplicated simple excision of the tumor was done in the operating theatre. The mass measured 7×5×5 cm and the histopathological examination found that it was a cellular angiofibroma, a benign lesion. There were no postoperative complications. This case report highlights the need for multidisciplinary team management of rare tumors such as cellular angiofibromas., Highlights • Soft tissue angiofibromas are benign, fibrovascular tumors with average size
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- 2021
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49. New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex
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Elizabeth P. Henske, Hilaire C. Lam, and Julie Nijmeh
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0301 basic medicine ,Genetics ,congenital, hereditary, and neonatal diseases and abnormalities ,Pathology ,medicine.medical_specialty ,Angiofibroma ,mTORC1 ,Biology ,medicine.disease ,Angiofibromas ,nervous system diseases ,Pathology and Forensic Medicine ,Pathogenesis ,03 medical and health sciences ,Tuberous sclerosis ,030104 developmental biology ,0302 clinical medicine ,Renal cell carcinoma ,030220 oncology & carcinogenesis ,medicine ,neoplasms ,Pathological - Abstract
In just the past 5 years, dramatic changes have occurred in the clinical management of tuberous sclerosis complex (TSC). Detailed knowledge about the role of the TSC proteins in regulating the activity of the mammalian target of rapamycin complex 1 (mTORC1) underlies this paradigm-shifting progress. Advances continue to be made in understanding the genetic pathogenesis of the different tumours that occur in TSC, including pivotal discoveries using next-generation sequencing (NGS). For example, the pathogenesis of angiofibromas is now known to involve UV-induced mutations, and the pathogenesis of multifocal renal cell carcinoma (RCC) in TSC is now known to result from distinct second-hit mutations. In parallel, the pathological features of TSC-associated tumours, including TSC-associated renal cell carcinoma, continue to be defined, despite the fact that TSC was first described 180 years ago. Here, we review recent discoveries related to the pathological features and genetic pathogenesis of TSC-associated tumours. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
- Published
- 2016
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50. Benign Primary Neoplasms
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Hesham Saleh and Shamim Toma
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Frontal sinus ,medicine.medical_specialty ,business.industry ,medicine.medical_treatment ,Inverted papilloma ,Scars ,Sinonasal Tract ,medicine.disease ,Angiofibromas ,Surgery ,03 medical and health sciences ,0302 clinical medicine ,medicine.anatomical_structure ,Otorhinolaryngology ,030220 oncology & carcinogenesis ,medicine ,Immunology and Allergy ,Papilloma ,Neurology (clinical) ,Embolization ,medicine.symptom ,030223 otorhinolaryngology ,business - Abstract
The goal of this paper is to present a detailed up-to-date overview of sinonasal benign neoplasms by reviewing their clinical and pathological characteristics, their diagnosis and their treatment. Traditionally, excision of larger benign neoplasms required invasive open approaches; however, due to advances in endoscopic surgery, there has been a shift towards their complete removal without employing any visible scars. The use of the chemotherapeutic agent 5-fluorouracil in the management of inverted papilloma in the frontal sinus has aided with disease control, where complete excision via the endoscopic route is difficult and challenging. The management of nasal papilloma by surgery, consensus opinion advocates removal of all diseased mucosa including subperiosteal excision of the sclerotic bone at the primary setting to maximize the likelihood of disease free outcome. In the management of juvenile nasopharyngeal angiofibromas, recent advances include the use of pre-surgical treatment with anti-androgen therapy which results in tumour shrinkage and devascularisation of the tumour by embolization prior to undertaking surgery. Benign sinonasal neoplasms are uncommon and have a number of aetiologies; however, they share common presenting symptoms. Despite being termed ‘benign’, some of these lesions are locally invasive involving the bone of the skull base and the orbit. An awareness of these uncommon lesions, their diagnostic characteristics and their specific management is fundamental to undertaking surgical treatment.
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- 2016
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