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Rapamycin has been used topically to treat facial angiofibromas associated with tuberous sclerosis for more than a decade. In the absence of a commercial form, a large number of formulations have been clinically tested. However, given the great heterogeneity of these studies, particularly with regard to the response criteria, it was difficult to know the impact and thus to compare the relevance of the formulations used. The objective of this work was therefore to evaluate the link between the diffusion of rapamycin and the physico-chemical characteristics of these different formulations on Strat-M&reg, membranes as well as on human skin using Franz cells. Our results underline the importance of the type of vehicle used (hydrogel &gt, cream &gt, lipophilic ointment), the soluble state of rapamycin and its concentration close to saturation to ensure maximum thermodynamic activity. Thus, this is the first time that a comparative study of the different rapamycin formulations identified in the literature for the management of facial angiofibromas has been carried out using a pharmaceutical and biopharmaceutical approach. It highlights the important parameters to be considered in the development and optimization of topical rapamycin formulations with regard to cutaneous absorption for clinical efficacy.

Somatostatin cell surface receptors are expressed on the peritumoral vessels of various benign and malignant neoplasms including angiofibromas. Positive initial uptake on positron emission tomography-computed tomography (PET/CT) imaging with 68Ga-labeled DOTANOC is noted in a patient with juvenile nasal angiofibroma (JNA), and the same is noted to be absent following complete surgical excision. Functional 68Ga-DOTANOC PET/CT may be an early useful tool for JNA residual/recurrence identification and precise postoperative surveillance.

Pearly penile papules are common small, asymptomatic papules occurring on the corona of the glans in normal males.

Objectives In recent years, various formulations containing rapamycin, mainly petrolatum-based, have been tested on facial angiofibromas in tuberous sclerosis. They are often poorly tolerated due to irritation and bleeding. In addition, their effectiveness was insufficient in young adults. The objective of this study was to develop and characterise a hydro-alcoholic gel containing solubilised rapamycin. The stability of the product stored at 4°C was evaluated over 1 year. Methods Two different 0.1% rapamycin gels were formulated with or without α-tocopherol and urea. Different methods were used to characterise the gels: HPLC, gas chromatography, pH, visual observation and optical microscopy. A physico-chemical and microbiological stability study was also conducted for 1 year at 4°C. Results Gels were physically and microbiologically stable after 1 year at 4°C: organoleptic characteristics and pH unchanged, no significant decrease in rapamycin was observed, tocopherol droplet size was constant and rheological behaviour was not altered. Conclusions This study describes a new gel formulation to improve skin penetration using various excipients to promote skin tolerance. This study provides, for the first time, detailed stability data for a hydro-alcoholic rapamycin gel.

Juvenile nasopharyngeal angiofibroma is a vascular tumor that typically occurs in men. Vestibular schwannoma (acoustic neuroma) is a tumor affecting the vestibulocochlear nerve. A 38-year-old man with various pigmented lesions and history of juvenile nasopharyngeal angiofibroma, vestibular schwannoma, and cleft lip and cleft palate is described. Characteristics of patients with coexisting juvenile nasopharyngeal angiofibroma and vestibular schwannoma are summarized. A search, using PubMed, was performed for the following terms: acoustic, angiofibroma, blue, cleft, combined, dysplastic, juvenile, lip, nasopharyngeal, neuroma, nevus, palate, schwannoma, and vestibular. The relevant papers were obtained and their references were reviewed. Only one man with coincident juvenile nasopharyngeal angiofibroma and vestibular schwannoma has previously been described. The juvenile nasopharyngeal angiofibromas were both right-sided and diagnosed when the patients were 13 years old and 20 years old. Our patient’s vestibular schwannoma was ipsilateral with his juvenile nasopharyngeal angiofibroma and incidentally diagnosed on a magnetic resonance imaging (MRI) scan that was performed to monitor for recurrent juvenile nasopharyngeal angiofibroma when he was in his 30s. The other man’s vestibular schwannoma and juvenile nasopharyngeal angiofibroma were diagnosed concurrently, when he was 20 years old. The observation of a patient with cleft lip and cleft palate, various melanocytic nevi, juvenile nasopharyngeal angiofibroma, and vestibular schwannoma is unique. Although the appearance of juvenile nasopharyngeal angiofibroma and vestibular schwannoma may be coincidental, the occurrence of these tumors in the same individual may suggest an association with regards to their pathogenesis.

Introduction: Angiofibroma is a benign, un-encapsulated, and highly vascular tumor which typically arises from the pterygopalatine fossa in the young adolescent males. It predominantly extends into the nasopharynx and rarely develops extranasopharyngeally. However, the most common origins of extranasopharyngeal angiofibromas are the maxillary sinus, ethmoid sinus and nasal cavity. Case Presentation: Here, we report a 40-year-old male who presented with headache and epistaxis and was diagnosed as an extranasopharyngeal angiofibroma originated from the sphenoid sinus. The tumor was completely resected endoscopically. The 24-month follow-up showed no recurrence. Conclusions: Angiofibromas should be considered as a possible diagnosis in any unilateral vascular mass of the nasal cavity, even in the older patients without typical imaging patterns.

Background Oral mechanistic target of rapamycin inhibitors have been shown to reduce visceral tumor volume in patients with tuberous sclerosis complex (TSC). Objective We sought to evaluate the cutaneous response to oral sirolimus in patients with TSC and an indication for systemic treatment, including long-term effects. Methods A retrospective analysis of 14 adult patients with TSC prescribed sirolimus to treat lymphangioleiomyomatosis was performed. Serial photographs of angiofibromas, shagreen patches, and ungual fibromas taken before, during, and after the treatment period were blinded, then assessed using the Physician Global Assessment of Clinical Condition (PGA). Microscopic and molecular studies were performed on skin tumors harvested before and during treatment. Results Sirolimus significantly improved angiofibromas (median treatment duration 12 months; median PGA score 4.5 [range 1.5-5]; Wilcoxon signed rank test, P = .018) and shagreen patches (median treatment duration 10 months; median PGA score 4.5 [range 3.5-5]; Wilcoxon signed rank test, P = .039), whereas ungual fibromas improved in some patients (median treatment duration 6.5 months; median PGA score 4.66 [range 2.75-5]; Wilcoxon signed rank test, P = .109). Clinical, immunohistochemical, or molecular evidence of resistance was not observed (range 5-64 months of treatment). Limitations This was a retrospective analysis limited to adult women with lymphangioleiomyomatosis. Conclusion Oral sirolimus is an effective long-term therapy for TSC skin tumors, particularly angiofibromas, in patients for whom systemic treatment is indicated.

Angiofibromas are the most recognized cutaneous manifestations of tuberous sclerosis complex. Angiofibromas can be associated with disfigurement, bleeding, pruritus, and erythema and may lead to significant psychosocial consequences for affected patients. Histopathologically, angiofibromas consist of a mixture of vascular and interstitial cells. Traditional treatment options include cryotherapy, electrocoagulation, radiofrequency ablation, dermabrasion, laser treatment, and topical agents such as podophyllotoxin. However, complications such as pain, postinflammatory hyperpigmentation, scarring, and the frequent recurrence rate reduce the utility of these treatment options. The introduction of topical rapamycin marked a turning point for treatment of facial angiofibromas; however, the lack of a standardized formulation, limited insurance coverage, and significant financial cost restrict universal access for patients and their caregivers. Both oral and topical β-blockers have proven extremely effective treatments for superficial vascular tumors such as hemangiomas and pyogenic granulomas. Topical β-blockers may potentially be useful for treatment of angiofibromas considering these lesions also contain a vascular component. Here we present an exploratory case report of a patient with tuberous sclerosis complex who had significant clinical improvement of her facial angiofibromas utilizing a “split-face” comparison protocol of topical timolol 0.5% gel after full-field treatment with ablative fractional laser resurfacing and pulsed-dye laser.

Mesenchymal-endothelial transition is proposed for juvenile angiofibromas (JAs). Propranolol might be an interesting new medical option in JA treatment, as it reduces mesenchymal cell growth and decreases the number of CD31-positive cells in vitro.Juvenile angiofibromas (JAs) are rare fibro-vascular tumors affecting almost exclusively adolescent males. Based on morphological aspects of irregularly configured vascular spaces and clinical features, JAs have been proposed to represent a vascular malformation. In general, mesenchymal-endothelial transition has been noted as an important process in tumorigenesis as well as in embryonal development.The study analyzed effects of vascular endothelial growth factor (VEGF)/basic fibroblast growth factor (bFGF) and propranolol on endothelial differentiation (CD31+) of cultured JA cells and their expression of angiogenic growth factors using aortic ring assay and enzyme-linked immunosorbent assay.Following VEGF/bFGF supplement to cultured mesenchymal cells, an average of 4.47% (± 2.35%) CD31-positive cells were found (p0.001). Propranolol addition reduced the number of CD31-positive cells and inhibited mesenchymal cell growth. The aortic ring assay and ELISA investigation indicated no increased angiogenic growth factor secretion from cultured JA mesenchymal cells.

Human angiofibromas are rare and arise typically in the nasopharynx. In veterinary medicine they have only been described in the dog. Microscopically, angiofibromas consist of irregular groups of blood vessels within a stroma of connective tissue, with oedema and secondary inflammation often present. A cockatiel (Nymphicus hollandicus) was presented with an oral mass that consisted of aggregates of blood vessels surrounded by a connective tissue stroma, with the presence of oedema and secondary inflammation. Tumours of the oral cavity are uncommon in birds and to the authors' knowledge this is the first case of avian angiofibroma.

Background Nasopharyngeal angiofibromas are typically considered benign vascular neoplasms, with descriptions of high-grade sarcomatous change found only in lesions with prior radiotherapy. Methods and Results We describe the first reported case of high-grade malignant change in a nasopharyngeal angiofibroma naive to radiation. A 45-year-old man presented with left-sided nasal congestion and fullness and was found to have a left-sided nasopharyngeal mass with intracranial extension on CT scan. A biopsy of the mass revealed nasopharyngeal angiofibroma. The patient opted for MRI surveillance, which revealed interval growth 3 years later. Decompression surgery revealed only angiofibroma, but resection 9 months later demonstrated high-grade sarcoma and concomitant angiofibroma. The patient had residual disease which progressed through chemoradiation, and is now pursuing clinical trial enrollment. Conclusion Malignant transformation of nasopharyngeal angiofibroma is extremely rare. As highlighted by this report, high-grade undifferentiated lesions may arise in tumors without previous radiation. © 2016 Wiley Periodicals, Inc. Head Neck, 2016

Although extranasopharyngeal angiofibroma (ENA) is a rare condition, its diagnosis should be considered during differential diagnosis of nasal masses. We report a rare case of ENA originating from the left lateral side of nasal tip. A 43-year-old man with an ENA mass located on the left lateral side of the nasal tip presented to our hospital. The nasal mass caused nasal obstruction and swelling at the nasal tip and was surgically removed. Histopathological examination revealed ENA. The patient is being followed up and remains free of disease. ENAs are rare and differ from nasopharyngeal angiofibromas regarding clinical and radiological features. Although it is rare, the diagnosis should be considered during differential diagnosis of a patient with one sided nasal mass and/or with refractory epistaxis, regardless of the patient's age or sex.

Background: Recent reports have suggested that the topical formulation of sirolimus is effective in treating facial angiofibromas in tuberous sclerosis complex (TSC). Here, we determined the safety and efficacy of 0.2% topical sirolimus for the treatment of facial angiofibroma and compared its effects based on age. Method: This was a retrospective study which involved 36 TSC patients with facial angiofibromas who were treated with 0.2% sirolimus ointment. Its effect was evaluated using the Facial Angiofibroma Severity Index (FASI). In order to observe its comparative effect based on patient age, a subgroup analysis was performed, between the adult group (> 18 years old) and the pediatric group (≤18 years old). Results: The total FASI as well as its subcategories (erythema, size, and extent) showed statistically significant improvements after the topical treatment with 0.2% sirolimus ointment (FASI before treatment: 7.2 ± 1.1, FASI after treatment: 4.4± 1.4, p < 0.001). Among the subcategories of FASI, the erythema was most significantly reduced with the fastest response to the treatment. In a subgroup analysis, the pediatric group showed significantly greater improvements in FASI (improvement of FASI in the pediatric group = 49.7 ± 12.2%, adult group = 27.9 ± 15.6%, p < 0.001). The serial improvement analysis also showed that the pediatric group achieved a consistently greater improvement in FASI at all visits. Its 1-year application in 3 patients demonstrated a continuous maintenance effect. No significant adverse effects were observed. Conclusion: 0.2% sirolimus ointment is safe and effective for facial angiofibromas. Considering its higher efficacy in younger patients, an early initiation of the treatment is recommended.

To explore the value of four-dimensional CT angiography (4D-CTA) in the preoperative evaluation of juvenile nasopharyngeal angiofibromas (JNAs) using 320-row volume CT.4D-CTA and DSA data of 18 patients with histopathologically proven JNAs were retrospectively reviewed. The location, extent, feeding vessels and stage of JNAs were assessed by two radiologists independently and blindly. The agreements between both reviewers and between 4D-CTA and surgical findings for assessing the above indicators were analysed, respectively. The radiation dose and the number of feeding arteries between 4D-CTA and digital subtraction angiography (DSA) were also compared.4D-CTA showed high diagnostic consistency with surgical pathology for JNAs with consistent rates of 96.2 and 100% in both reviewers, respectively. The effective dose of 4D-CTA was significantly less than that of DSA (p0.001). Good agreements between 4D-CTA and surgical findings and between the two reviewers were found in the assessment of the location, extent and stage of JNAs. 4D-CTA showed that 15 lesions were supplied strictly by the external carotid artery circulation and 3 by the external and internal carotid artery supply, which was in accordance with DSA. There were no significant differences in the main arterial feeder number obtained by 4D-CTA and DSA between different observers (all p0.05).4D-CTA can provide a reliable preoperative diagnosis and assessment of JNAs, which is useful for determining the surgical strategy and management of this condition.

OBJECTIVES: Access to the pterygopalatine fossa is very difficult due to its complex anatomy. Therefore, an open approach is traditionally used, but morbidity is unavoidable. To overcome this problem, an endoscopic endonasal approach was developed as a minimally invasive procedure. The surgical aim of the present study was to evaluate the utility of the endoscopic endonasal approach for the management of both benign and malignant tumors of the pterygopalatine fossa. METHOD: We report our experience with the endoscopic endonasal approach for the management of both benign and malignant tumors and summarize recent recommendations. A total of 13 patients underwent surgery via the endoscopic endonasal approach for pterygopalatine fossa masses from 2014 to 2016. This case group consisted of 12 benign tumors (10 juvenile nasopharyngeal angiofibromas and two schwannomas) and one malignant tumor. RESULTS: No recurrent tumor developed during the follow-up period. One residual tumor (juvenile nasopharyngeal angiofibroma) that remained in the cavernous sinus was stable. There were no significant complications. Typical sequelae included hypesthesia of the maxillary nerve, trismus, and dry eye syndrome. CONCLUSION: The low frequency of complications together with the high efficacy of resection support the use of the endoscopic endonasal approach as a feasible, safe, and beneficial technique for the management of masses in the pterygopalatine fossa.

Tuberous sclerosis is an inherited neurocutaneous disorder characterized by pleomorphic features involving many organ systems, including the skin. The diagnosis of tuberous sclerosis is clinical. The most common cutaneous lesions are hypopigmented macules, also known as ash-leaf spots, which are usually elliptic in shape, angiofibromas, which typically involve the malar regions of the face, and shagreen patches, most commonly present over the lower trunk.In the present case, the patient was referred to the dermatology department due to an atypical lesion with an uncommon location, revealing the importance of a whole body examination in patients with this disease., A esclerose tuberosa é uma síndrome neurocutânea, hereditária, autossómica dominante, caracterizada por manifestações pleomórficas envolvendo múltiplos órgãos, incluindo a pele. O diagnóstico de esclerose tuberosa é clínico. As lesões cutâneas mais comuns nestes doentes são: máculas hipopigmentadas, habitualmente com forma elíptica, os angiofibromas, tipicamente envolvendo a região malar e placas de “shagreen”, mais frequentemente localizadas à região inferior do tronco. No caso descrito, a doente foi referenciada à consulta de dermatologia por uma lesão atípica de localização incomum, que demonstra a importância da observação de toda a pele nesta patologia.

Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem genetic disorder. It is characterised by formation of benign hamartomas, neurofibromas, and angiofibromas located in different organs. We describe a case of a 13-year boy who complained of gingival enlargement. Clinical examination showed distinctive dermatological signs like hypopigmented macules, shagreen plaques, miliary fibromas, fibrous plaques and multiple angiofibromas. Oral manifestation included localised gingival enlargement. Gingivectomy was performed and the excised tissue was submitted for histopathological examination. The microscopic examination of gingival tissue revealed multiple bundles of collagen fibres with proliferating fibroblast and multiple proliferating blood vessels in the connective tissue. The clinical and histopathological findings were consistent with gingival angiofibromas of TSC. Gingivectomy allowed the patient to have better function and aesthetics. Periodontal examination in conjunction with dermatological examination is important for early diagnosis of TSC.

Facial angiofibromas are a common cutaneous manifestation of tuberous sclerosis complex. Although angiofibromas are usually asymptomatic, they can be highly disfiguring and can have a significant impact on patient quality of life. Treatment for facial angiofibromas is challenging. Recently, topical rapamycin has been proposed as an effective option to treat angiofibromas. Herein is reported a case of a 27-year-old woman whose facial angiofibromas were successfully treated with topical rapamycin without relevant side effects.

Background: Juvenile nasal angiofibromas (JNA) is a benign lesion with high vascularity and propensity of bone erosion leading to skull base invasion and intracranial extension. It is known to involve multiple compartments, which are often surgically difficult to access. With evolution in surgical expertise and technical innovations, endoscopic and endoscopic-assisted management has become the preferred choice of surgical management. Over the last four decades, various staging systems have been proposed, which are largely based on the extent of nasal angiofibroma. However, no clear guidelines exist for the stage-appropriate surgical management. In this study, we aim to formulate a novel staging system based on the analysis of high quality preoperative imaging and propose detailed surgical guidelines related to disease stages as observed in 242 primary cases of JNA. Methods: A retrospective analysis of the case records of 242 primary JNA cases was performed at our center. Patients were staged according to various existing staging systems as well as our own new staging system, and outcome variables were compared with respect to intraoperative blood loss, multiple staged operations, and tumor recurrences. Operative records were studied and precise endoscopic surgical guidelines were formulated for each stage. Results: Comparing the intraoperative blood loss seen in stages of various classifications, it was found that intraoperative blood loss correlated best and statistically significantly with stages in the newly proposed Janakiram staging system when compared to the existing staging systems. Staged operations were performed in a total of 7/242 patients, and there was a significant association between the requirement of a staged operation and tumor extent (Fischer's exact test, P < 0.001). Tumor recurrence was seen in 22 cases and the pterygoid wedge was found to be the most frequent site of recurrence initially. As the extent of resection improved with better surgical technique over time, recurrences were only found in superior orbital fissure, around the internal carotid artery, and in the middle cranial fossa. Conclusion: This new Janakiram staging system is based on preoperative imaging data from one of the largest JNA case series reported thus far. Respective guidelines reliably stratify patients into treatment groups with definite surgical approaches and predicts outcome. Improved surgical approaches in the modern endoscopic era have redefined JNA management with improved outcome. This study shows the importance of precise presurgical imaging and the choice of the most suitable surgical approach in reducing morbidity and mortality in JNA surgery.

Embolization is recognized as an established endovascular interventional neuroradiologic technique for the preoperative devascularization of juvenile angiofibromas. The goal of preoperative embolization of juvenile angiofibromas is the selective obliteration of the intratumoral abnormal arteriolocapillary bed, leading to tumor devascularization, with preservation of the normal arterial supply to surrounding tissues followed by ischemic transformation and some size reduction of the tumor. These embolization-induced changes improve the surgical conditions and contribute to radical tumor removal with minimal intraoperative blood loss. Appropriately performed embolization based on detailed knowledge of the local functional vascular anatomy carries a minimal risk for permanent neurologic morbidity and no mortality. To achieve this goal, a thorough pretherapeutic tumor evaluation by imaging techniques, a detailed angiographic workup, and the application of appropriate embolization techniques, which are described in detail, are necessary.

Background Cellular angiofibroma is a rare benign mesenchymal neoplasm with morphological and immunohistochemical similarities to spindle cell lipoma. Karyotypic information on cellular angiofibroma is restricted to one case only which showed loss of material from chromosomes 13 and 16. A few other studies using fluorescence in situ hybridization showed deletions of the RB1 and FOXO1 loci, both of which are located in chromosome band 13q14. We present here cytogenetic data on two cellular angiofibromas with an abnormal karyotype. Methods G-banding and fluorescence in situ hybridization (FISH) analyses were done on two cellular angiofibromas. Results In both tumors, a rearrangement leading to loss of chromosome 13 material was seen, together with other structural chromosome abnormalities. FISH analysis showed heterozygous deletion of the RB1 locus (13q14) in both cases. Conclusion Our results demonstrate loss of chromosome 13 material in cellular angiofibroma, though not as the sole cytogenetic change, confirming the (cyto)genetic similarity of these tumors with spindle cell lipomas.

Advanced juvenile angiofibromas (JA) are challenging tumors to treat surgically due to the involvement of skull base structures and vascularity derived from the intracranial circulation. Tumor infiltration of the pterygoid base encompasses the pterygoid canal and derives blood supply from branches of the internal carotid artery (ICA), most commonly the vidian artery and branches from the cavernous segment. Large tumors may surround the petrous and cavernous segments of the ICA and increase the risk of vascular injury during surgery.

Craniofacial approaches may still be necessary, especially in those cases with significant intracranial tumor burden, those with intimate tumor association with the internal carotid artery (ICA), and those where the tumor has a significant extension laterally to the carotid artery. Complications including cerebrospinal fluid (CSF) leakage may necessitate reoperation or cerebrospinal fluid diversion. Meticulous closure using vascularized flaps minimizes the incidence of such complications. Given the proximity of the pathology to the intracranial circulation, the surgical team must be prepared for and able to perform standard revascularization procedures in the setting of inadvertent injury to these vessels. In this chapter, the craniofacial approach to juvenile angiofibromas is discussed along with outcomes in a cohort of patients treated using this strategy.

Tuberous sclerosis complex (TSC) is a multisystem genetic disease. Its incidence is estimated from 1/5800 to 1/1000 births. It results from the mutation of the TSC1 gene on chromosome 9 which codes for hamartin or the mutation of the TSC2 gene on chromosome 16 which codes for tuberin. In 80% of cases, it is linked to a neo-mutation and in 20% of cases it is autosomal dominant inherited from one of the parents. It is a multisystemic disease characterized by the presence of dysplasias, hamartomas and neoplasias in various organs: skin, kidneys, eyes, heart, lungs and mainly the brain. Clinically, epilepsy is the major complication of TSC and approximately 80-90% of patients will develop epilepsy in their lifetime. These epilepsies aren't specific but are generally characterized during evolution by their phamaco-resistance or by the complexity of the seizures. We report the case of a 12-year-old woman with partial epilepsy secondarily generalized, mental retardation and progressive facial angiofibromas (A) for 7 years. The electroencephalogram (EEG) performed 1 year ago showed bihemispheric irritant signs predominant at the frontotemporal right. The brain CT Scan with (B) and without injection of iodinated contrast agent (C) shows calcified subependymal nodules with supratentorial seat with bilateral asymmetric involvement and uncalcified cortical tubercles. The addition of the characteristic triad (convulsion, mental retardation and sebaceous adenoma) to the CT data enabled us to conclude a TSC. The evolution of convulsive seizures was significantly favorable under antiepileptic monotherapy (phenobarbital). On the other hand, mental retardation persists and angiofibromas continue to multiply at the facial level.

Angiofibromas are rare, benign, but locally aggressive vascular tumours which account for 0.05-0.5% of all head and neck neoplasms. The common variant of angiofibromas of head and neck region is Juvenile Nasopharyngeal Angiofibroma (JNAF) which is well published in the literature. Incidence of Extranasopharygeal Angiofibromas (ENAF) is relatively rare and most of the published literature favours maxillary sinus as the most common site. We report a rare clinical entity of ENAF involving the upper lip which is first of its kind in the light of literature review owing to its anatomical location. The present article not only complements a new location of angiofibroma (in the upper lip) but also concretely reinforces the inclusion of angiofibromas in the spectrum of differential diagnosis of soft tissue lesions pertaining to oral cavity.

Introduction Juvenile nasopharyngeal angiofibroma is a rare benign neoplasm in the nasopharynx. The tumor tends to be locally aggressive and is typically seen in adolescent boys. Extranasopharyngeal angiofibromas have been reported sporadically in the literature. They most commonly originate from the maxillary sinus. Objectives A 26-year-old woman was referred to our clinic with intermittent epistaxis from the right nasal passage for the previous 2 months. Maxillofacial magnetic resonance imaging showed a lobular, contoured mass originating from the right inferior turbinate and hanging in the right nasal cavity, with dense contrast enhancement denoting hypervascularity. Resumed Report Vascular feeding of the mass was seen from the right internal maxillary artery with angiography, and this branch was embolized. On the following day, the patient underwent transnasal endoscopic excision of the mass. An approximately 3-cm-diameter mass was excised by partial turbinectomy, and the posterior edge of the remaining turbinate was cauterized. Conclusion Extranasopharyngeal angiofibromas are rarely seen, and the inferior turbinate is an extremely rare location for them. This young woman is the first case reported in the English literature of angiofibroma originating from the inferior turbinate. We should consider these neoplasms can be found in female, nonadolescent patients with extranasopharyngeal localization, and we should not perform biopsy because of its massive bleeding.

Sinonasal and anterior skull base (ASB) schwannomas are rare entities. The majority of these lesions are found within the sinonasal tract, although some have intracranial extension via invasion of the ASB. Often, these tumors can be confused for other entities, especially olfactory groove meningiomas and esthesioneuroblastomas in the olfactory groove region, and juvenile nasopharyngeal angiofibromas in the infratemporal fossa. We present a single institutional series of four patients with sinonasal and ASB schwannomas that were resected purely via an endoscopic endonasal approach. A retrospective chart review was performed to identify individuals with sinonasal and/or ASB schwannomas. Demographic data, presenting symptoms, imaging, treatment, and follow-up were recorded. Two male and two female patients were included in this study. The average age was 53.5 years (range, 21 to 71). The most common presenting symptoms were facial pain and hyposmia. All tumors were treated with endoscopic endonasal resection. One patient had intradural intracranial extension and required an extended endoscopic endonasal transcribriform approach with ASB resection, while another case involving the infratemporal fossa was treated with an extended endoscopic endonasal transpterygoid approach to this region. There were no major complications at an average follow-up of 9 months (range, 0 to 16). Sinonasal and ASB schwannomas are rare entities, with often nondescript symptoms and can often mimic other types of skull base tumors. Total resection via a purely endoscopic endonasal approach can be considered for these rare neoplasms.

Nasopharyngeal angiofibromas are rare vascular tumours seen in ENT practice. Treatment of these tumours is a challenge for the ENT surgeon due to their high vascularity. They are mostly seen in male adolescents and are located in the nasopharynx with their origin being the sphenopalatine foramen. Extra-nasopharyngeal angiofibromas are very uncommon. We present here 2 such patients along with review of literature of extranasopharyngeal angiofibroma. One patient is a 28 years old where the tumour originated from the frontal recess, posterior to attachment of axilla of the middle turbinate. The second patient is a 12 year old boy where the mass was seen arising from the nasal septum. The unusual age of the patients and site of origin of these tumours make these unique cases worth reporting.

Summary Introduction: Juvenile nasopharyngeal angiofibroma is a rare, highly vascular, and histologically benign tumor, generally observed in male adolescents. It shows very aggressive behavior due to local invasiveness and is associated with various symptoms. Juvenile nasopharyngeal angiofibroma originates in the sphenopalatine forame, causing epistaxes and nasal obstruction. Objective: To retrospectively describe our experience in the diagnosis and treatment of patients with juvenile nasopharyngeal angiofibroma. Scientific drawing: Retrospective, descriptive study conducted after approval from the Ethics Committee of the Federal University of Sergipe (protocol 0114.0.107.000 -11). Methods: We analyzed findings in 20 patients who underwent surgery between 2004 and 2011. Factors analyzed include patient age and gender, symptoms, stages, treatment, length of surgery, intraoperatory bleeding, postoperative need for nasal tampons, hospitalization time, complications, and tumor recurrence. Results: Patients were aged 10–29 years. All patients were treated surgically, including 17 who underwent endoscopic surgery. The mean operation time was 120 min, and the mean bleeding volume was 300 mL. Seventeen patients required clamping of the external carotids and tumor embolization. Conclusion: Endoscopic surgery alone or with other conventional techniques was safe for the treatment of angiofibromas of different stages.

Tuberous sclerosis complex (TSC) is an autosomal dominant syndrome due to a mutation in the TSC2 or TSC1 gene. The disease is known to have variable expressivity involving the neurological, cardiovascular, renal, pulmonary, and integumentary systems (Kennedy et al., 2017). We present a case report, and associated literature review, of a toddler with a posterior scalp lesion which was identified as a soft tissue fibroma upon histopathology. Unlike angiofibromas, soft tissue fibromas in the head and neck are not common in patients with TSC. This soft tissue tumor may be considered as one of the major criteria in the diagnosis of TSC.

Juvenile nasal angiofibroma (JNA) is a benign, fibro-vascular, locally aggressive tumor with invasive growth patterns and high probability of recurrence. JNA present exclusively in adolescent boys between 9 and 19 years of age, total about 0.05% of head and neck tumors. 143 patients with JNA had been treated surgically from 2002 to August 2018 at N.N. Burdenko National Medical Research Center for Neurosurgery. All patients (primary and recurrences) were males of the age 7-38 years (16.1 [11.3; 19] years). The age of patients with primary JNA was less than 18-year old, of the exception of presenting case. There are more and more publications about case reports and successful treatment series of JNA. However, after detailed review the literature we revealed some kind of confusion: there are case reports of JNA in women and elderly people, JNA in patients with some systemic diseases, JNA with different places of origin and different morphological structure. In this paper we present a very rare case of 38 year-old male with pure primary JNA, accidentally diagnosed on CT and pathologically proven after endoscopic removal. This case confirms the possibility of detecting the JNA in adult men and explains why proper diagnosis of angiofibromas is necessary. The unique case and the literature review are presented.Юношеская ангиофиброма основания черепа (ЮАОЧ) - это редкая быстрорастущая доброкачественная сосудисто-фиброзная опухоль, характеризующаяся локальным деструирующим ростом и высоким процентом рецидивов. Она встречается в 0,05% случаев всех опухолей головы и шеи, у пациентов подросткового возраста (9-19 лет) [1-3]. В НМИЦ нейрохирургии им. акад. Н.Н. Бурденко накоплен большой опыт лечения пациентов с ЮАОЧ: с 2002 г. по август 2018 г. были прооперированы 143 пациента. Все пациенты как с первичной опухолью, так и с ее рецидивом были мужского пола, в возрасте от 7 до 38 (16,1 [11,3; 19]) лет. Возраст первичных пациентов не превышал 18 лет, за исключением одного пациента, у которого ЮАОЧ впервые была выявлена в возрасте 38 лет. В последние годы появляется все больше публикаций успешного лечения пациентов с данной патологией. Однако при ближайшем рассмотрении оказалось, что в литературе отмечается некая путаница: описания случаев юношеских ангиофибром у женщин, а также у мужчин зрелого и пожилого возраста, ангиофибром различной локализации, при различных системных заболеваниях и с разным гистологическим строением. В данной статье мы приводим редкое клиническое наблюдение пациента 38 лет с истинной первичной ЮАОЧ, случайно обнаруженной при плановом обследовании по данным КТ. После эмболизации сосудов опухоли пациент был успешно прооперирован эндоскопически. Диагноз был подтвержден гистологически и иммуногистохимически. Приведенное наблюдение подтверждает возможность обнаружения истинной ЮАОЧ у взрослых мужчин и объясняет, почему необходима правильная диагностика ангиофибром.

Tuberous sclerosis complex (TSC) is known to cause severe intractable epilepsy and mental retardation; however, diagnosis can be delayed in milder cases. We report a 26-year-old right-handed female patient who started having convulsions at age 7days. She had several focal seizures per year that were intractable to treatment with carbamazepine or phenytoin. Her two sisters had several episodes of suspected epileptic seizures but had no symptoms related to TSC. Seizure semiology of the patient comprised of visual hallucination, loss of consciousness, and convulsive movements predominantly on the right. Physical examination revealed several small scattered angiofibromas over the nose that were histologically determined by skin biopsy. Hypomelanotic macules, shagreen patches, or periungual fibromas were not seen. Neurological examination showed mental retardation (MMSE: 23/30, WAIS-III: VIQ63, PIQ59, FIQ58) and decreased vibration sensation in both legs. Interictal EEG showed slow waves and epileptiform discharges broadly over the anterior quadrants bilaterally. Brain imaging showed multiple cortical tubers and malformation of cortical development but no subependymal nodules. Interictal IMP-SPECT showed hypoperfusion in the left frontal lobe. Cardiac rhabdomyoma was not noticed by cardiac echography. Truncal CT showed sclerosis of the bilateral lumbosacral joints. There was no abnormality in the lung, major arteries, liver, or kidneys. No hamartomas or retinal achromic patches were noticed by ophthalmologic evaluation. Administration of lamotrigine was effective for her seizures. This patient fulfilled two major features of diagnostic criteria for TSC and was diagnosed as definite TSC. Patients with mental retardation and epilepsy should be carefully evaluated for the possible diagnosis of TSC.

One of the most visible and potentially disfiguring cutaneous manifestations of tuberous sclerosis complex is the development of multiple facial angiofibromas, present in over 80% of patients. Topical rapamycin has been shown in many reports to be a safe and effective treatment for facial angiofibromas. In February 2012 we reported the results of a pilot study of four patients undertaken at a paediatric tertiary hospital in Australia. Since then, we have continued to refine the optimal formulation and concentration of topical rapamycin and expanded our selection of patients. We present an update on our current cohort of treated patients, discuss the optimal formulation of topical rapamycin and include a literature review on all published cases to date. Although topical rapamycin is not a curative treatment, we have demonstrated that its early institution significantly reduces both the vascularity and palpability of angiofibromas and prevents their progression with age. It is well tolerated and now a cost effective option.

Tuberous sclerosis, an autosomal dominant neurocutaneous syndrome seen in approximately 1 in 6,000 people worldwide, is characterized by the appearance of hamartomas in multiple organs. The classic clinical triad consists of angiofibromas, epilepsy, and developmental delay. Dermatologic disorder is one of the main characteristics. Angiofibromas, a common form of presentation, causes significant cosmetic and medical problems. The current treatment for skin lesions is laser therapy. The carbon dioxide (CO2) laser has been used satisfactorily in treating these lesions, but several studies have demonstrated a high percentage of recurrences. Erbium:yttrium–aluminum–garnet (YAG) laser treatment has been used to resurface skin abnormalities in patients with dermatologic conditions. The dye laser as an alternative uses the principles of selective photothermolysis and is very effective in treating the vascular component of tuberous sclerosis. The use of all these lasers to treat skin lesions in patients affected by tuberous sclerosis has never been described in the literature. A retrospective study, conducted from 2007 to May 2013, investigated 13 patients who had tuberous sclerosis treated with an erbium:YAG/CO2/dye laser combination. All the patients showed great improvement of their skin lesions. The results were evident immediately after the first treatment. No patient experienced complications or recurrence. The combined use of the erbium:YAG/Dye/CO2 laser is a safe and effective treatment for skin lesions in patients affected by tuberous sclerosis. This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Summary Background Tuberous sclerosis complex (TSC) is an autosomal dominant disorder causing multiple hamartomas. Treatment of TSC lesions with mammalian target of rapamycin inhibitors is effective. Recently, several reports have shown the efficacy of topical rapamycin (sirolimus) for angiofibromas. However, almost all studies have been case studies and the 0·1% solution caused skin irritation. A comparative study of topical rapamycin and a vehicle has not yet been reported. Objectives To compare the efficacy of topical rapamycin formulation with that of vehicle for angiofibromas. Methods A left–right comparative study between rapamycin 0·2% topical formulation and vehicle was conducted in 11 patients with TSC. Two formulations, an ointment and a gel, were prepared and in vitro percutaneous absorption of rapamycin was determined. Results In vitro percutaneous absorption of rapamycin was significantly greater with the gel compared with the ointment. In the clinical study, the rapamycin-treated cheek showed significant improvements relative to the vehicle-treated cheek in all outcome measures after 12 weeks of treatment. The improvement was particularly remarkable in children aged ≤ 10 years. No side-effects were noted, and rapamycin was not detected in the blood of the patients. Conclusions Topical rapamycin was significantly effective against angiofibromas. Both formulations used were effective and safe. The 0·2% gel is especially useful because of its better skin penetration and low irritancy. Initiation of topical rapamycin therapy in early childhood would be beneficial for patients with TSC.

Aim To evaluate the relationship between intraoperative blood loss and juvenile nasopharyngeal angiofibroma (JNA) vascular supply and tumour stage in patients who underwent superselective external carotid artery (ECA) embolization. This series is unique in that all embolizations were performed by dedicated paediatric interventional radiologists at a tertiary referral paediatric centre. Materials and methods Seventeen male patients treated from January 2002 to August 2009 underwent preoperative angiography and embolization using polyvinyl alcohol (PVA) particles. Tumours were graded using three different staging systems based on preoperative imaging and correlated to surgical blood loss. All patients underwent bilateral internal and external carotid angiography, with embolization of ECA tumour supply via microcatheter delivery of PVA particles. Particle size ranged from 150–500 μm with a mean size of 250–355 μm. Surgical resection was performed with either endoscopic or open techniques within 24 h and intraoperative blood loss was reported. Results Seven lesions were supplied strictly by the ECA circulation and had mean surgical blood loss of 336 ml. Twelve lesions had both ECA and internal carotid artery (ICA) supply and had mean surgical blood loss of 842 ml. The difference in blood loss in these two groups was statistically significant (p = 0.03). There was no case of inadvertent intracranial or ophthalmic embolization. There were statistically significant correlations between estimated surgical blood loss and the Andrews (p = 0.008), Radkowski (p = 0.015), and University of Pittsburgh Medical Center (UPMC; p = 0.015) preoperative tumour staging systems, respectively. Conclusion Preoperative embolization of JNA tumours can be safely performed without neurological complications. The present study identified a statistically significant difference in intraoperative blood loss between those lesions with a purely ECA vascular supply and a combination of ECA and ICA vascular supply. Angiography is helpful in delineating ICA supply and can help guide surgical planning.

Angiofibromas, located in any other sites than nasopharynx are unusual. Cardiac angiofibromas are a very rare cardiac tumours in comparison to rhabdomyomas which are the commonest in the children. We report a right ventricular tumour in a10 year old girl which was excised under cardiopulmonary bypass successfully and diagnosed as angiofibroma on histopathology. Journal of College of Medical Sciences-Nepal, 2012, Vol-8, No-4, 51-54 DOI: http://dx.doi.org/10.3126/jcmsn.v8i4.8702 &nbsp

Angiofibromas are histologically benign, but unencapsulated and highly vascular tumors with a potential of local destructive effect. Angiofibromas predominantly originate from the posterolateral wall of the nasopharynx. Extranasopharyngeal angiofibromas are extremely rare and mostly seen in maxillary sinus and ethmoid sinus. In this article, we report a 21-year-old male case who was admitted with headache and diagnosed with an angiofibroma originating from the sphenoid sinus.

Angiofibromas (AFs) are benign, potentially local aggressive, and rich vascular neoplasms that originate from posterior lateral wall of the nasopharynx in adolescent males. However, they could be encountered in sites other than nasopharynx. The maxillary sinus is the most common location of extranasopahryngeal AFs. The nasal septum is an extremely rare location, and only 15 cases had been reported in literature. In this present case, an unusual extranasal AF originating from the anterior part of the nasal septum is reported with its clinical, laboratory, and treatment options and theories proposed to explain the origin of extranasopharyngeal AFs are discussed.

Juvenile nasopharyngeal angiofibromas (JNAs) are hypervascular tumors that may benefit from preoperative devascularization to reduce intraoperative blood loss (IBL). The purpose of this study was to compare transarterial particulate embolization (TAPE) with the direct percutaneous embolization (DPE) technique using ethylene vinyl alcohol (Onyx, ev3, Irvine, CA) for the preoperative devascularization of a JNA. We retrospectively reviewed 50 consecutive JNA resections since 1995 for which preoperative embolization was either transarterial with particulate material (n = 39) or DPE (n = 11) using only Onyx. The IBL, transfusion requirements, operative time, and length of hospital admission were compared between the two groups. The mean IBL was 1,348.7 ± 932.2 mL particulate group, 569.1 ± 700.7 mL Onyx group (one-tailed Student’s t test p = 0.003). The mean unit of packed red blood cells was 1.56 ± 2.01 units particulate group, 0.45 ± 1.04 units Onyx group (p = 0.009). The relationship between embolization type and IBL remained significant or strongly correlated when accounting for the Fisch stage of the tumor (p = 0.010 and p = 0.056, respectively, by a multivariate least squares fit; alternately p = 0.0003 and p = 0.023, respectively, in the subset of patients with Fisch stage III tumors only). We also found that the proportion of resections for which an endoscopic approach could be used was significantly higher in the Onyx group than the particulate group (81.8 and 18.2 %; Pearson p = 0.0002), and this was also significant both in our multivariate nominal logistic fit (p