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Abstract Background Angiofibroma is a rare, histologically benign but locally aggressive vascular tumour that typically arises within the nasopharynx. Angiofibroma in sites other than the nasopharynx is extremely uncommon. Despite the histological similarities, the clinical features of this tumour are very much different from the typical nasopharyngeal angiofibroma and pose a diagnostic challenge, hence emphasizing the importance of a thorough evaluation and high index of suspicion in establishing the correct diagnosis. Case presentation A 25-year-old gentleman presented with progressive right nasal blockage and intermittent nasal discharge for 3 years duration. He was clinically and radiologically diagnosed as a mucocele. Surgical excision was done via endoscopic medial maxillectomy with complete relief of all the symptoms. Conclusion Although uncommon, angiofibroma can occur outside the nasopharynx. Therefore, thorough evaluation and a high index of suspicion are crucial in establishing the correct diagnosis.

Background: Angiofibroma is a rare, histologically benign but locally aggressive vascular tumour that typically arises within the nasopharynx. Angiofibroma in sites other than the nasopharynx is extremely uncommon. Despite the histological similarities, the clinical features of this tumour are very much different from the typical nasopharyngeal angiofibroma and pose a diagnostic challenge, hence emphasizing the importance of a thorough evaluation and high index of suspicion in establishing the correct diagnosis. Case presentation: A 25-year-old gentleman presented with progressive right nasal blockage and intermittent nasal discharge for 3 years duration. He was clinically and radiologically diagnosed as a mucocele. Surgical excision was done via endoscopic medial maxillectomy with complete relief of all the symptoms. Conclusion: Although uncommon, angiofibroma can occur outside the nasopharynx. Therefore, thorough evaluation and a high index of suspicion are crucial in establishing the correct diagnosis. [ABSTRACT FROM AUTHOR]

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Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder that can involve multiple organ systems. Diagnosis is based on independent clinical diagnostic criteria and genetic diagnostic criteria (pathogenic variants on TSC1 and TSC2 genes). To make a definitive diagnosis can be especially difficult in oligosymptomatic or asymptomatic patients and in those patients with genetic variants of uncertain significance (VUS). Early diagnosis and lifelong surveillance are paramount to avoid morbidity and potentially life-threatening complications. To increase diagnostic sensibility, less known manifestations of TSC can be helpful. Herein we show a case in which SBLs were used as a diagnostic clue to help diagnose three generations of oligosymptomatic TSC carrying a VUS in TSC1. SBLs are commonly detected in imaging studies of patients with TSC and have been recently included as a minor clinical diagnostic criterion. Clinicians and radiologists should be aware of their significance as they can be mistaken with osteoblastic metastases. [ABSTRACT FROM AUTHOR]

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.

La Esclerosis Tuberosa (ET) ó Complejo Esclerosis Tuberosa es un trastor- no genético autosómico dominante que afecta a niños y adultos. Se debe a la ausencia parcial o total de la expresión de los genes TSC1 (hamartina) o TSC2 (tuberina), lo que genera disfunción orgánica por crecimiento de hamartomas en sistema nervioso central, riñón, corazón, pulmón y piel. Un seguimiento protocolizado nos ayuda a confirmar el diagnóstico así como a identificar precozmente complicaciones clínicamente significati- vas. Nos permite además identificar portadores de mutaciones entre los familiares y realizar eficazmente labores de consejo genético

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.

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.

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. [ABSTRACT FROM AUTHOR]

Non-endocrine findings in patients with MEN1 (multiple endocrine neoplasia) syndrome also include skin lesions, especially tumor-type lesions. This is a narrative review of the English-language medical literature including original studies concerning MEN1 and dermatological issues (apart from dermatologic features of each endocrine tumor/neuroendocrine neoplasia), identified through a PubMed-based search (based on clinical relevance, with no timeline restriction or concern regarding the level of statistical significance). We identified 27 original studies involving clinical presentation of patients with MEN1 and cutaneous tumors; eight other original studies that also included the genetic background; and four additional original studies were included. The largest cohorts were from studies in Italy (N = 145 individuals), Spain (N = 90), the United States (N = 48 and N = 32), and Japan (N = 28). The age of patients varied from 18 to 76 years, with the majority of individuals in their forties. The most common cutaneous tumors are angiofibromas (AF), collagenomas (CG), and lipomas (L). Other lesions are atypical nevi, basocellular carcinoma, squamous cell carcinoma, acrochordons, papillomatosis confluens et reticularis, gingival papules, and cutaneous T-cell lymphoma of the eyelid. Non-tumor aspects are confetti-like hypopigmentation, café-au-lait macules, and gingival papules. MEN1 gene, respective menin involvement has also been found in melanomas, but the association with MEN1 remains debatable. Typically, cutaneous tumors (AF, CG, and L) are benign and are surgically treated only for cosmetic reasons. Some of them are reported as first presentation. Even though skin lesions are not pathognomonic, recognizing them plays an important role in early identification of MEN1 patients. Whether a subgroup of MEN1 subjects is prone to developing these types of cutaneous lesions and how they influence MEN1 evolution is still an open issue.

Importance: We believe this to be the first documented report of multiple endocrine neoplasia type-1 (MEN-1) in which the diagnosis was suspected based purely on cutaneous findings. The patient was initially referred to the dermatology department for cosmetic concerns and had no overt symptoms, laboratory abnormalities, or known family history of MEN-1.Observations: The patient is a 28-year-old man who was referred to the dermatology department for evaluation and removal of skins lesions, later confirmed by biopsy to be facial angiofibromas and a truncal collagenoma. This combination of cutaneous findings was suspicious for a genodermatosis and genetic testing subsequently confirmed the diagnosis of MEN-1. The patient was referred for appropriate follow up and surveillance.Conclusions and Relevance: This case highlights the importance of vigilance on the part of dermatologists to be aware of subtle skin findings that may be characteristic of rare disorders and may have gone unrecognized by other providers and the patients themselves. In this respect, dermatologists are in a unique position given their specialized training in the recognition of inherited skin disorders. An early diagnosis of an inherited disorder, especially one with increased risk of malignancy, can allow for appropriate surveillance and potentially alter the course of the disease.

Copyright of Galicia Clínica is the property of Sociedad Gallega de Medicina Interna and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Dermatologists encounter a wide range of cutaneous vascular lesions, including infantile hemangiomas, port-wine stain birthmarks, arteriovenous malformations, venous malformations, Kaposi sarcomas, angiosarcomas, and angiofibromas. Current treatment modalities to reduce these lesions include topical and/or intralesional steroids, laser therapy, surgical resection, and endovascular therapy. However, each method has limitations owing to recurrence, comorbidities, toxicity, or lesion location. Photodynamic therapy, antiangiogenic therapy, and evolving methods of sclerotherapy are promising areas of development that may mitigate limitations of current treatments and offer exciting options for patients and their physicians.

A 35-year-old Indian lady, born out of non-consanguineous parentage, presented with multiple asymptomatic bumps over face and fingers. The facial lesions had started appearing since 2 years of age and finger lesions were first noticed during her adolescence. She had been on anti-epileptic medication for recurrent episodes of seizures since last 15 years. Her family history was insignificant. Examination revealed multiple non-tender, discrete, yellowish-brown to skin-coloured, soft-to-firm papules (1 to 3 mm) distributed symmetrically over centrofacial region. Multiple firm, non-tender, skin-coloured nodules over proximal nail fold along with longitudinal nail grooving were noted (Panel a, red arrow). A small firm skin-coloured plaque (Panel b, red arrow) and a leaf-shaped hypopigmented macule (Panel b, black arrow) were observed over thigh. Oral examination revealed a non-tender soft-to-firm papule over upper gingival (Panel a, black arrow). Systemic examination was insignificant. Routine blood investigations, echocardiography, ultrasonography of abdomen and fundoscopy of eyes failed to reveal any abnormality. Magnetic resonance imaging of the brain revealed cortical tubers and calcified subependymal nodules.

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.

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. [ABSTRACT FROM AUTHOR]

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.

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.

Tuberous sclerosis complex (TSC) is a rare multisystem genetic disease, with an estimated incidence of 1 in 6000–1 in 10,000. TSC is an autosomal dominant syndrome involving heart, kidneys, lungs, and skin. The classic triad of TSC is seizures, mental retardation, and angiofibromas; this triad occurs in only 29% of patients. The clinical diagnostic guidelines on TSC are prepared based on clinical features, radiographic findings. The most common oral manifestations of TSC are fibroma, gingival hyperplasia, and enamel hypoplasia. Odontogenic myxofibroma represents a rare slow-growing benign neoplasm found rarely in children below 10 years or adults over 50 years of age. The prevalence of myxoma is between 0.04% and 3.7%. Here, we are reporting a rare case of myxofibroma of gingiva in an 8-year-old female TSC patient.

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.

An 11-year-old girl, from a consanguineous family. With history of suspected akinetic seizures and normal intelligence. Physical examination revealed several small-scattered facial angiofibromas that were histologically determined by skin biopsy. Hypomelanotic macules, shagreen patches on her back. Periungual fibromas were not seen. CT brain showed multiple calcified sub ependymal nodules and cortical tubers. Cardiological consult and ECG were normal. Neurological consult shows: normal status of conscience, without meningeal signs of irritation, cranial nerves without deficit, and no ataxia. No hamartomas or retinal achromic patches was noticed by ophthalmologic evaluation. Radiography of the chest, truncal CT was without abnormality. So with the above clinical findings, a diagnosis of Tuberous sclerosis was made, and the patient is under regular monitoring. Tuberous Sclerosis, also known as Bourneville's disease, is an autosomal dominant syndrome with variable clinical expression. The dermatologist plays an essential role in the history of the disease, since skin manifestations represent the most prevalent clinical features, enabling early diagnosis and intervention in its natural course.

Facial angiofibromas are the most visible and unsightly of all the cutaneous manifestations of tuberous sclerosis (TSC). A 17-year-old female, a known case of TSC, presented for the treatment of cosmetically disfiguring facial angiofibromas. She was started on twice daily application of 0.1% sirolimus ointment prepared from crushed tablets of sirolimus compounded in white soft paraffin. After 3 months of use, there was visible decrease in the erythema and the size of the angiofibromas. In an attempt to accelerate the response, the concentration was further increased to 1% sirolimus which was used for a month, resulting in a decrease not only in the size and redness but also in the number of the angiofibromas. The patient did not experience any cutaneous or systemic complications related to therapy. Sirolimus belongs to a novel class of anticancer drugs known as mTOR (mammalian target of Rapamycin) inhibitors. Sirolimus has been used as a targeted therapy for the renal and neurological manifestations of TSC. Topical preparation of sirolimus is not commercially available till date and hence preparations from crushed tablets or oral solution of sirolimus have been used with beneficial effects in treatment of angiofibromas especially in younger patients with flatter lesions. Randomized controlled trials are necessary to enable us to confirm the efficacy, long-term safety, the optimal dosage and possibility of reappearance once the drug is withdrawn. This is possibly the first case report of the use of topical sirolimus in India.

Aims: Topical rapamycin is used to reduce facial angiofibromas in patients with tuberous sclerosis (TSC). In the absence of a commercially available preparation, numerous formulations have been tested clinically, although only in the short term., Methods: The pharmacy at Angers University Hospital (France) produced a cream formulation that was administered to people presenting this genetic disease. We conducted a questionnaire-based survey among 79 patients with TSC about their perceptions regarding the short-, medium- and long-term efficacy and safety of a topical rapamycin preparation in relation to facial angiofibromas., Results: This formulation was very well tolerated and its efficacy was sustained over the long term with a mean treatment duration of 33 months (extremes 1-60). Efficacy was rated ≥ 8/10 by 67.1% of patients while safety was rated ≥ 8/10 by 84.8% of patients., Conclusion: This survey supports the safety and efficacy of topical rapamycin in the short-, medium- and long-term in the treatment of facial angiofibromas in a cohort of 79 patients with TSC., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)