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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.

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.

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.

Juvenile nasopharyngeal angiofibroma (JNA) is a locally aggressive tumor that predominantly affects adolescent males. Surgical resection is generally considered the standard treatment for both primary and recurrent tumors, regardless of staging. The natural history of these tumors, particularly when untreated or in the setting of residual tumor, is not well characterized. In this article, we report a case of true spontaneous JNA involution. Although the involution of residual tumor after surgical resection has previously been reported, to our knowledge, this is the first documented case of spontaneous JNA involution following a period of tumor growth post-treatment. Laryngoscope, 131:1455-1457, 2021.

Juvenile nasopharyngeal angiofibroma (JNA) is a pathologically benign yet locally aggressive and destructive tumor that develops in the choana and nasopharynx. Historical treatment of JNA has included embolization, surgical resection, and radiation. Here, we describe three patients who received therapy with the mTOR inhibitor sirolimus with improvement in clinical symptoms, imaging, and overall well-being.

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.

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

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.

Objectives/Hypothesis: To explore the molecular genetic background of juvenile nasopharyngeal angiofibromas and to identify biological processes and putative factors determining the different growth patterns of these tumors. Study Design: By comparing copy number and gene expression level changes of two clinically different phenotypes of juvenile nasopharyngeal angiofibromas, we aimed to find processes essential in the growth and development of these tumors. Based on the results and prior knowledge of the proteins significance for growth, we studied the expression of tyrosine kinase SYK in 27 tumor samples. Methods: Comparative genomic hybridization and gene expression analyses were performed for the two tumor samples, and protein expression of SYK was studied in 27 samples by immunohistochemical staining. Results: Between low- and high-stage juvenile nasopharyngeal angiofibromas, 1,245 genes showed at least a two-fold change in expression. The corresponding proteins of these transcripts were enriched in different biological processes. Protein kinase SYK was expressed in all 27 samples, and its intensity significantly correlated with tumor stage. Conclusions: Because the molecular genetic background of juvenile nasopharyngeal angiofibroma is unknown, our aim was to investigate genomic alterations that could associate to low- and high-stage tumors. We were able to identify gene expression changes that relate to particular biological processes, but assessing clinically relevant molecular profiles still requires further characterization. Due to the low incidence of juvenile angiofibroma, in the future a combination of molecular profiling data from several studies would be useful in understanding the molecular background of the disease. Laryngoscope, 2012

Background Juvenile nasopharyngeal angiofibromas (JNAs) with significant skull base involvement and intracranial extension are challenging tumors. We evaluated our experience in the treatment of extensive JNAs through resection followed by radiosurgery. Methods From 1999 to 2007, 10 advanced JNAs (Andrews grade IV) were treated by primary surgical resection followed by gamma knife radiosurgery of residual tumor. Tumor control and treatment morbidity were evaluated. Results Six months after radiosurgery and annually thereafter, an imaging study was done that revealed decrement in tumor size in 3 patients and no change in 7 patients, after a 3-year minimum follow-up. Clinically, patients are asymptomatic. Conclusion An efficient strategy in the management of extensive JNAs is the use of a multimodality approach, in which surgical resection is followed by the treatment with radiosurgery in critical locations. These therapeutic schemes are safe and offer long-term tumor control. © 2012 Wiley Periodicals, Inc. Head Neck, 2013

Background. Glucocorticoids (GCs) not only regulate metabolic and inflammatory mechanisms, but also are known to suppress tumor growth. Despite previous detection of glucocorticoid receptors (GRs) in juvenile angiofibromas, their distribution and function have not further been studied. Methods. Juvenile angiofibroma tissue (n ¼ 30), nasal mucosa specimens (n ¼ 10), subepithelial stroma of nasal mucosa (n ¼ 20), and primary fibroblasts from juvenile angiofibroma (n ¼ 6) and nasal mucosa samples (n ¼ 6) were analyzed by quantitative reverse transcriptase-polymerase chain reaction (RT-PCR) and immunofluorescence staining. The antiproliferative effect of GCs (dexamethasone, prednisolone, and hydrocortisone) in vitro was assessed using a bromdeoxyuridine (BrdU) assay. Results. An upregulation of GR transcripts and protein was shown in juvenile angiofibroma tissue and primary mesenchymal cells compared to nasal mucosa. Application of GCs resulted in a significantly higher antiproliferative effect on juvenile angiofibroma versus nasal mucosa fibroblasts in vitro. Conclusion. Expression of GRs and antiproliferative effects of GCs on juvenile angiofibroma fibroblasts offer novel options for the treatment of this unique fibrovascular tumor. V C 2012 Wiley Periodicals, Inc. Head Neck 34: 1615-1621, 2012

Tuberous sclerosis complex (TSC) is an autosomal dominant genodermatosis characterised by the development of hamartomatous tumours in multiple organs including the brain, skin, kidneys, heart and lungs. Facial angiofibromas are the most visible and unsightly of the cutaneous manifestations of TSC, often resulting in stigmatisation for both the affected individuals and their families. Current treatments include vascular laser, ablative lasers and other destructive techniques such as shave excision and electrodessication. For the best outcome these treatments have to be repeated throughout childhood and teenage years, necessitating multiple general anaesthetics. We report a pilot study of topical rapamycin in four children with TSC and facial angiofibromas. Two patients were trialled on 0.1% rapamycin in petrolatum and the other two patients with 0.1% rapamycin solution (Rapamune) applied topically. Both preparations were rapidly and equally effective, however the 0.1% in petrolatum was much better tolerated. Younger patients with smaller angiofibromas had the best response with near complete clearance. Both preparations were more cost effective than pulsed dye laser under general anaesthesia. Although larger studies are needed, this treatment shows a potential to be a first-line management for facial angiofibromas in TSC and appears safe to start in early childhood.

Background. The main goal of the study was the analysis of somatostatin receptor (SSTR) expression on juvenile na- sopharyngeal angiofibroma (JNA) cells and a subsequent analysis of the utility of SST analog-based scintigraphy in JNA diagnostics. Methods. Nine JNA cases were analyzed. All tissue sam- ples were analyzed for the expression of SSTRs. In 2 cases, scintigraphy was performed after the intravenous (IV) adminis- tration of an SST analog. MRI of the craniofacial region was subsequently performed. Results. The SST analogues were accumulated in areas matching pathologic tissue in the nasopharynx. Immunohisto- chemical evaluation of the tissue samples proved the overex- pression of SSTRs. Conclusions. SSTRs are overexpressed on JNA cells. The SST analog 99m TC-octreotide is effectively bound to JNA cells. SST analogues might be used in the diagnostics and treatment of primary, recurrent, or residual JNA. V C 2011 Wiley Periodi- cals, Inc. Head Neck 33: 1739-1746, 2011

Background and Objective Tuberous sclerosis (TS) is a well-described genetic disorder that is classically associated with up to hundreds of facial angiofibromas. Due to the progressive nature of the skin lesions and the early clinical presentation, a safe and effective technique for treating these disfiguring skin lesions is needed. Study Design/Patients and Methods We report a combinatorial technique for treating the angiofibromas of TS. We present a case series of three TS patients treated with this technique combining pinpoint electrosurgery, pulsed-dye laser treatment, and ablative fractional resurfacing (AFR). Results In all presented cases, improvement in the number and appearance of facial angiofibromas and erythema is noted. No scarring or adverse events were reported. Conclusion The technique of electrosurgery, pulsed-dye laser treatment, and AFR represents a new and safe therapeutic option for treating facial angiofibromas associated with TS. Lasers Surg. Med. 42:357–360, 2010. © 2010 Wiley–Liss, Inc.

Facial angiofibromas are a major diagnostic sign for tuberous sclerosis (TS) and MEN1, and the former is probably the first disease to be considered by a geneticist when such lesions are found. They occur in up to 90% of persons with TS and 40–80% of individuals with MEN1. Early onset facial angiofibromas that are not associated with any other systemic sign appear to be unusual, and their occurrence can leave the clinician with some uncertainty as to their significance, as well as how to proceed. In this article we describe four patients with what appear to be isolated, bilateral facial angiofibromas. We discuss the significance of these lesions with respect to the conditions in which they have been seen, review prior reports of apparently isolated angiofibromas, and provide some rough calculations as to how likely it would be for an underlying systemic condition to be overlooked after different levels of investigation have been performed. We also look at some aspects of the financial cost/benefit ratio of further investigation of TS beyond a clinical examination. © 2010 Wiley-Liss, Inc.

Angiofibromas are highly vascular benign tumors that characteristically arise within the nasopharynx and are predominantly seen to occur in young adolescent males. Extranasopharyngeal angiofibromas are rare with only 56 cases being reported to date. The most common site of presentation for extranasopharyngeal angiofibromas is the maxillary sinus. We report a buccal space angiofibroma excised via an intra-oral route and discuss surgical approaches to the buccal space with a relevant review of literature.

The chemical analysis of grey matter from a tuberous sclerosis subject indicated the presence of two different types of grey matter based on two distinctly different ganglioside concentrations. Both samples had gangliosides of reduced concentration with an abnormal composition compared to normal grey matter as evidenced from their thin-layer chromatography profiles. Analyses of the glycoprotein fraction from both samples revealed increased glycoprotein content, particularly in total carbohydrate. This observation was consistent with previous studies of angiofibromas and angiomyolipomas.

Frequent beta-catenin mutations have been detected in juvenile angiofibromas, but the tumor pathogenesis remains unknown.Metaphase-comparative genomic hybridization (CGH) was used to identify chromosomal aberrations in 29 tumor specimens. Two tumors were investigated using genome DNA microarrays.Three hundred eleven chromosomal gains and losses were detected by metaphase-CGH. Frequent chromosomal gains were detected at 4q, 6, 12, and X, while frequent chromosomal losses affected regions of chromosomes 8, 16, 17, 22, and Y. Genome DNA microarray analysis in 2 tumors of the series confirmed chromosomal aberrations, detected by metaphase-CGH, and indicated genes such as AURKA (20q13.2) not being recognized by metaphase-CGH.Metaphase-CGH results confirmed numerous chromosomal aberrations in juvenile angiofibromas. The most frequent aberrations affected sex chromosomes. Further consensus regions of chromosomal aberrations were detected at 4q, 6, 8, 12, 16, 17, and 22. AURKA and MDM2 were identified as interesting novel amplified genes in juvenile angiofibromas.

Background: Tuberous sclerosis complex (TSC) is associated with mutations in two likely tumor-suppressor genes (TSC1 and TSC2) and characterized by the development of tumor-like growths (angiofibromas) in a variety of tissues and organs, particularly brain and skin. Methods: Employing a DNA-microarray assay, able to detect mRNA production from 1176 different basic genes, we analyzed the gene-expression levels in a cutaneous hamartoma sample from a TSC patient. Altered gene expressions detected by microarray technology were further checked by quantitative reverse-transcriptase polymerase chain reaction (RT-PCR) in the same material and in cutaneous hamartoma samples obtained from five other TSC patients. Results: The results obtained by the microarray technology in one hamartoma specimen, confirmed by the RT-PCR results obtained in the same material and in five other hamartoma specimens, demonstrated that TSC-related angiofibromas exhibit significant mRNA overexpression of two genes, represented by MLH-1 and psoriasin. Conclusions: The overexpression of MLH-1, which codes for a DNA mismatch repair protein, and psoriasin, which codes for a specific chemoattractant factor for CD4+ T cells, implicated in the pathogenesis of inflammatory skin disease, and expressed in excess during abnormal pathways of cell growth, may shed light on the pathogenesis of the proliferative skin lesion.

Background and Objective The angiofibromas of Tuberous sclerosis (TS) is well described manifestation. Due to the progressive nature of the skin lesion, a safe and effective technique for treating these disfiguring skin lesions is needed. Study Design/Patients and Methods We report a targeted topical and combination laser technique for treating the angiofibromas of TS in one patient. This includes treatment with topical sirolimus, pinpoint electrosurgery, pulsed-dye laser treatment, and ablative fractional resurfacing (AFR). Results Improvement in the number and appearance of facial angiofibromas and erythema is noted, without scarring or adverse events. Conclusion The technique of targeted therapy with sirolimus with electrosurgery, pulsed dye laser treatment, and AFR represents an innovative, safe therapeutic option for treating facial angiofibromas associated with TS. Lasers Surg. Med. 45:555–557, 2013. © 2013 Wiley Periodicals, Inc.

Background Angiofibromas have traditionally been removed through open procedures. All tumors in this consecutive series of patients were removed endoscopically. Setting Tertiary care hospital. Materials and methods Seven consecutive patients presenting with an angiofibroma between 1994 and 2000 were included in the study. Tumor size varied with 1 stage 1, 2 stage IIa, 3 stage IIb, and 1 stage IIC according to the Radkowski et al classification. The surgical technique is presented. Results After an average of 3.75 years (SD, 1.9 years), there have been no tumor recurrences. Conclusion Endoscopic removal of angiofibromas in the nasal cavity, with extension into the sinuses and pterygopalatine fossa and with limited extension into the infratemporal fossa, can be removed endoscopically with a good success rate.

Background: Angiofibromas occur sporadically, and they develop in most patients with tuberous sclerosis complex (TSC), which is associated with alterations of the tumor suppressor genes TSC1 or TSC2. Loss of tuberin, the protein product of TSC2, has been shown in the interstitial fibroblast compartment of TSC-associated angiofibromas. It is unclear whether there is also a loss of hamartin, the product of TSC1 in TSC-associated and sporadic angiofibromas. Methods: The expression of hamartin and tuberin was analyzed by immunohistochemistry in 59 TSC-associated and 12 sporadic angiofibromas using affinity-purified antibodies. Results: Loss of expression of both tuberin and hamartin was detected in 14 angiofibromas, loss of only tuberin in three, and loss of only hamartin in four TSC-associated angiofibromas; but there was no loss in the sporadic angiofibromas. Only the interstitial cells, but not the vascular cells, showed a loss of expression of tuberin or hamartin. Conclusions: Loss of tuberin or hamartin occurred in a minority of the TSC-linked angiofibromas, but not in the sporadic angiofibromas. The absence of both tuberin and hamartin in some of the tumors suggests that the stability of tuberin and hamartin, which are believed to form an active complex in vivo, is negatively affected by the absence of either of the partners.

Background Angiofibromas are uncommon vascular tumors with a strong predilection for the nasopharynx of adolescent males. Although they are slow growing and histologically benign, they have the potential to cause significant morbidity with laryngeal involvement. Methods We describe the clinical characteristics, histopathologic findings, differential diagnosis, preoperative evaluation, and management of a case of laryngeal angiofibroma. Results The patient was initially seen with a 2½-year history of progressive dyspnea and dysphagia. Preoperative evaluation suggested a vascular mass involving the left supraglottic larynx. A partial laryngopharyngectomy was performed without complication. The patient is alive and disease free 3 years postoperatively. Final histopathologic diagnosis is consistent with angiofibroma. Conclusions Laryngeal angiofibroma is an extremely rare entity. Adequate preoperative imaging is necessary to confirm the vascularity of this lesion, because ill-planned biopsy may lead to significant blood loss. The role of preoperative embolization of other laryngeal vascular lesions has been well documented and may be useful in the management of laryngeal angiofibroma. © 2002 Wiley Periodicals, Inc. Head Neck 24: 805–809, 2002

Objectives:Although intracranial extension of angiofibromas is not uncommon, intradural penetration is rare. Management of such rare tumors is a challenging issue in skull base surgery, necessitating tumor removal via combined approaches in most cases. In this paper we present our experience for management of extensive intradural angiofibromas.Methods:Six cases were male patients, 5 between 15 and 19 years old, presenting with nasal obstruction and epistaxis and proptosis. One of them was an aggressive recurrent tumor in a 32-year-old patient. They were scheduled for combined approaches with assistance of image-guided endoscopic surgery.Results:Six cases underwent combined transnasal, tramaxillary, and craniotomy approaches with assistance of image-guided endoscopic surgery. Craniotomy preceded rhinologic approach in 3. CSF leak and skull base defect was repaired by temporalis muscle flap and pericranial flap in 4 and fascia lata in 2. One postoperative leak was repaired with fascia lata transcranially. O...

A study of four cases of extra-orbital giant cell angiofibroma with documentation of some unusual features Aims: To document the clinical, light microscopic, immunohistochemical and ultrastructural features of four cases of extra-orbital giant cell angiofibromas. Methods and results: Sections of formalin-fixed paraffin-embedded specimens were studied by haematoxylin and eosin, reticulin and immunohistochemical stains. Electron microscopy was carried out in two cases on tissue fixed in formalin. The age of the patients ranged from 30 to 41 years. Two patients presented with a soft tissue swelling in the left groin, one patient had a left axillary soft tissue lump and one patient presented with a parotid lump. All lesions were well circumscribed and contained variably cellular and vascularized tissue composed of round to spindle cells with a patternless arrangement, scattered multinucleate giant cells and pseudovascular spaces conforming to the description of giant cell angiofibroma. Mononuclear and multinucleate tumour cells were both positive for vimentin and CD34; one tumour exhibited focal S100 protein and GFAP positivity. Both of the tumours examined by electron microscopy showed fibroblastic features, but in addition one contained cells having Schwannian features. All four patients were well without recurrent disease on follow-up (average 25 months). Conclusion: Giant cell angiofibroma shares many features with solitary fibrous tumour and giant cell fibroblastoma and shows a wider distribution than initially recognized. Rarely, Schwannian differentiation may be observed in these tumours.

Background: Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited disorder associated with an alteration of the TSC2 tumor suppressor gene which encodes for the protein product tuberin. The disease is characterized by the development of hamartomas, e.g. cutaneous angiofibromas which consist of vascular cells, interstitial cells, and normal components of the skin. The Eker rat model, an animal model of inherited cancer, has been shown to carry a mutation of TSC2. Methods: Immunohistochemical analyses of human angiofibromas were performed using antibodies directed against tuberin and angiogenic growth factors. Proliferation of human dermal microvascular endothelial cells (HDMEC) was determined after incubation with the supernatants of TSC2 (+/+) and TSC2 (−/−) rat embryonic fibroblasts (REF) that were derived from the Eker strain. Results: Loss of the expression of tuberin was observed in the interstitial cells of 13 of 39 angiofibromas. The expression of tuberin was retained in the vascular cells. In all analyzed angiofibromas, the angiogenic factors bFGF, PD-ECGF, VEGF and angiogenin were detected in the interstitial cells and/or vascular cells. Expression of PDGF-B and TGF-β1 was weak. Tissue culture supernatants from TSC2 (−/−) REF stimulated the growth of HDMEC significantly more than supernatants from TSC2 (+/+) REF. Conclusion: A functional loss of tuberin may stimulate vascular growth.

Objectives/Hypothesis The mainstay treatment for juvenile angiofibromas is surgery. Endoscopic techniques have been applied to the resection of juvenile angiofibromas. The aim of the study is to establish the efficacy of endoscopic and endoscopic-assisted techniques for the removal of juvenile angiofibromas. Study Design Retrospective review. Methods Retrospective review was made of all patients with juvenile angiofibromas who were treated with endoscopic and endoscopic-assisted surgery from January 1994 to July 1999. Results Fifteen tumors in 13 patients were removed using endoscopic or endoscopic-assisted surgeries. In 11 patients, endoscopic surgery or endoscopic-assisted surgery (or both) was successful and the patients remained without evidence of disease at a median follow-up of 34 months. In two patients tumor persisted, which was detected during routine follow-up less than 6 months after the initial surgery. These tumors were managed with a second endoscopic or endoscopic-assisted surgery, and patients remained without evidence of disease. We encountered one postoperative complication, a progressive optic neuropathy that was successfully managed with endoscopic decompression. Conclusions Endoscopic and endoscopic-assisted surgery is a feasible alternative or adjunct to traditional techniques.

Cutaneous lesions are an important feature of tuberous sclerosis (TS). Facial angiofibromas usually begin to appear at the end of the first decade of life and are considered to occur in about 88% of adults with TS. They are only rarely reported on sites other than the face or front. In this paper, we report two patients with the complete syndrome of TS that had, in addition to classic facial lesions, multiple papules on the genital area. Histopathology confirmed the diagnosis of angiofibroma. One patient's lesions were misdiagnosed as genital warts and were so being treated before the correct diagnosis was made. Although we don't know the incidence of genital angiofibromas in TS patients, we believe that they might be underreported, because dermatologists generally don't look for them when they see these patients.

Cellular angiofibroma is a rare distinctive mesenchymal neoplasm of the vulva or perineal region. We report here one unique extravulvar case. A 43-year-old woman presented with an asymptomatic tumor, 7 cm in diameter, located in the subcutaneous tissue of the chest below the left submammary sulcus. Histologically, the lesion was composed of uniform spindled stroma cells, numerous thick-walled vessels, and scarce mature adipocytes. An additional feature was the presence of prominent perivascular lymphoid aggregates. The stromal cells were positive for vimentin and negative for CD34 and muscle, epithelial, myoepithelial, or neural markers. Although nasopharyngeal angiofibroma or the group of acral angiofibromas have a concurrent heading, cellular angiofibroma should not be mistaken with them. Differential diagnosis of this distinctive tumor especially includes aggressive angiomyxoma, angiomyofibroblastoma, superficial angiomyxoma, vascular myxolipoma, and other tumors with spindle cells reminiscent of those in angiofibroma.

The therapeutic approach to angiofibromas in tuberous sclerosis is a challenge for the Dermatologist. The latest treatment modalities include use of argon and carbon dioxide lasers. We describe the ease of an 18-year-old Caucasian boy with multiple angiofibromas on the face, treated with CO2 laser with good cosmetic results.

Objective: Assess the treatment strategy for nonmalignant primary tumors of the nasal cavity.Method: The subjects were 41 patients who underwent surgery for nonmalignant tumors of the nasal cavity during the 3 years. An endoscopic examination, contrast-enhanced computed tomography (CT), and magnetic resonance imaging (MRI) were performed preoperatively, and all of the patients were treated surgically.Results: The diagnosis was papilloma in 21 cases, hemangioma in 15 cases, juvenile angiofibroma in 3 cases, and leiomyoma in 2 cases. For patients diagnosed with papilloma by endoscopy and CT, additional MRI was performed to identify the tumor base. Computer-aided surgery was used, and the tumor was endoscopically resected. Because blood flow was sufficient in cases of hemangiomas or angiofibromas, preoperative embolization was performed in 2 cases. Although external incision was anticipated in some cases, endoscopic resection of tumors was possible in all cases, and none of the patients required transfusions...

Background Juvenile nasopharyngeal angiofibromas (JNAs) are rare benign lesions that express hormonal receptors. This report describes a recurrence of a JNA 20 years after excision associated with exogenous testosterone therapy. Methods A 36-year-old man developed a sphenoid mass 20 years following resection of a JNA, shortly after initiating exogenous testosterone therapy for symptomatic low endogenous testosterone. Results The mass was subsequently excised and was histologically consistent with a JNA. The patient resumed his testosterone therapy postoperatively. Repeated imaging has demonstrated no recurrence after 3 years. Conclusion This unique case adds further evidence to the role of testosterone in the pathogenesis of JNAs. Exogenous testosterone can cause tumor regrowth at any time, even decades following treatment. The patients with a history of JNA, even those without recurrence for years, should weigh the risk of recurrence before the use of exogenous testosterone. © 2009 Wiley Periodicals, Inc. Head Neck, 2010

Educational objectives: To better understand how to differentiate the various types of vascular neoplasms and identify those that will need subsequent treatment and to gain insight into what is currently available for the treatment of head and neck hemangiomas.

Juvenile nasopharyngeal angiofibromas (JNA) are rare. They have been frequently treated with estrogens, either solely or as an adjuvant therapy prior to surgery or irradiation. Clinical trials have provided no evidence to explain the objective response to estrogens observed in some tumors. Since the mechanism of steroid hormone action is mediated via specific receptors, we analyzed 8 JNA for tumor cytosol estrogen receptors. None were positive for estrogen receptors. Additionally, all were also negative for progesterone receptors. Nasopharyngeal angiofibromas occur predominantly in adolescent boys at a time when there is a gradual change in androgen availability. Therefore, three latter angiofibromas were also analyzed for the presence of cytosol androgen receptor. Specific testosterone and dihydrotestosterone binding components in the tumor cytosol were detected. This observation raises for the first time the possibility that JNA may be an androgen-dependent tumor. Estrogen may act as an antiandrogen on these tumors, an action similar to that on prostate cancer. Cancer 46:547–551, 1980.

Port wine stains (PWSs), hereditary hemorrhagic telangiectasias (HHTs), hemangiomas, arterial venous malformations (AVMs), vascular granulomas and polyps, glomus tumors, and nasopharyngeal angiofibromas are vascular lesions of the head and neck potentially responsive to treatment with the argon laser. One hundred consecutive patients with PWSs, 25 patients with HHTs, three with subglottic hemangiomas, three with oral and/or lingual hemangiomas, two with labial AVMs, three with vascular laryngeal polyps, and one patient with inoperable glomus tumor were treated with the argon laser. Results were good to excellent in 94% of the facial PWS patients. All treated patients in the HHT group demonstrated improvement. Results with the other lesions were variable. The argon laser is a valuable treatment modality in vascular lesions of the head and neck. Posttreatment scarring and failure to achieve desired results are complications encountered. Pretreatment counseling will assist the patient in understanding the expected results.

Large juvenile nasopharyngeal angiofibromas are a therapeutic challenge because of their relation to major vasculature and cranial nerves at the base of the skull, and their propensity for recurrence. A classification scheme based on the growth pattern of this tumor is proposed to help the surgeon choose a procedure to access this lesion. This report describes the results obtained with the surgical removal of large (class III and IV) nasopharyngeal angiofibromas through the infratemporal fossa approach. Fourteen patients were cured and one individual developed a recurrence which was totally removed at a second procedure. Surgical morbidity was minimal and there was no mortality. Radiation therapy was necessary in only one patient who had tumor infiltration of the cavernous sinus.

Computerized axial tomography (CAT) of the head provides the otolaryngologist with an effective diagnostic tool. This technique is particularly useful when used in the preoperative evaluation of head and neck pathology and may be used to define the extent of disease and to direct the surgical approach. The case of a 16-year-old male with an extensive angiofibroma involving the paranasal sinuses and nasopharynx is presented as an example of CAT in preoperative planning of the surgical procedure. Computerized tomography was used initially to define the tumor margins. Serial CAT scans were also obtained at intervals during the patient's preoperative estrogen therapy. Evidence was obtained which suggests CAT may be used to monitor the effects of preoperative hormone management of angiofibromas and in the definition of the optimal time for surgery. In the case presented the final CAT scan provided a detailed and accurate description of the tumor margins which were confirmed at surgery. Our experience with a case of an extensive nasopharyngeal angiofibroma demonstrates the CAT scan to be a useful objective diagnostic method for preoperative planning.

Facial angiofibromas are estimated to occur in 90% of patients with tuberous sclerosis and can cause considerable cosmetic disfigurement, emotional distress, obstruction of vision, and hemorrhage when abraded. Postoperative wound management associated with skin grafting and dermabrasion is often difficult because patients are mentally retarded and noncooperative. Three patients with extensive facial angiofibromas were treated successfully with the carbon dioxide (CO2) laser, with follow-up period ranging from 8 to 48 months. Uncomplicated wound healing occurred in each patient with minimal recurrence of lesions. Ablation with the CO2 laser is our treatment of choice for angiofibromas associated with tuberous sclerosis.

57Co-Bleomycin (57Co-BLM) was used to visualize malignancies of the head and neck because it does not present the disadvantages of many other radiopharmaceuticals. In a series of 21 patients with 9 control subjects and 12 cases of tumors. 57Co-BLM showed a high and rapid uptake in primary site and metastases of malignant tumors of various histologic types, but not in benign tumors such as angiofibromas. Compared to 67Ga-citrate. 57Co-BLM has many advantages for tumor imaging in the areas of nose, pharynx and larynx: No background activity due to the concentration of 57Co-BLM in normal structures of the head and neck has ever been observed, as opposed to what happens with 67Ga-citrate. Furthermore, the blood clearance of 57Co-BLM is much more rapid than that of 67Ga-citrate, so that an early study may be performed in a 6-24 hr. interval instead of 48-72 hr. with 67Ga-citrate. 57Co-BLM scintigraphy is an easy, non-invasive and sensible diagnostic technique in determining the extent of malignant tumors in ORL patients.

Angiofibromas occur in 90% of patients with tuberous sclerosis. Their growth is slowly progressive until adult life, causing considerable cosmetic disfigurement and severe emotional and psychological problems. Dermabrasion can be used successfully to improve cosmesis and hence the quality of life in such patients.

A systematic treatment approach for nasopharyngeal angiofibromas is presented. Surgery, as the primary treatment modality is advocated. Routine pre-operative angiography is utilized for diagnosis and delineation of tumor extent. The surgical approach or approaches is dependent upon the tumor extent.

Pearly penile papules are frequently occurring lesions located over the corona and sulcus of the penis. They are asymptomatic and are considered to be acral angiofibromas. Some individuals, disturbed by their presence, request removal of the lesions. Even after patients are assured of the benign nature of the process and its relatively high incidence, prominent lesional involvement may still cause significant psychological distress. Two patients with pearly penile papules have been successfully treated with the carbon dioxide laser. A review of the literature and description of treated cases are presented.

A case of fibrosarcoma arising in a recurrent nasopharyngeal angiofibroma 18 years after radiation therapy is described. A review of the medical literature revealed two other documented cases of sarcomatous transformation of angiofibroma, and in both, the angiofibromas had also been irradiated before the sarcomatous transformation. These occurrences should caution against the indiscriminate application of radiation therapy in nasopharyngeal angiofibromas.

The approach to deep midline cranial structures is technically difficult. The transpalatal approach has a relatively wide exposure as compared to the transnasal, transantral and transethmoidal approches. The added advantage of a medial approach which follows medial landmarks and the flexibility of being able to extend exposure to the maxillary sinuses and pterygomaxillary space makes this an attractive approach for large lesions in the nasal passages, nasopharynx and sphenoid sinuses. Large mucoperiosteal flaps, care to avoid the palatine vessels, and application of a palatal splint postoperatively, minimize complications and patient discomfort. The authors have used this approach to repair naso-pharyngeal atresia, remove nasopharyngeal angiofibromas, approach the pituitary, craniopharyngioma and isolated sphenoid sinus opacification as well as sphenoid sinusitis with cavernous sinus thrombosis.