Search

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...

Nasopharyngeal angiofibromas are benign and vascular neoplasms, which originate characteristically in the posterior lateral wall of the nasopharynx. They account for less than 0.5% of all head and neck tumours. Although angiofibromas extend beyond the nasopharynx usually, they rarely originate outside the nasopharynx. Reports of primary extranasopharyngeal angiofibromas have appeared sporadically in the literature. The maxillary sinus is the most common site involved, while the inferior turbinate represents an extremely rare localization. We report a case of angiofibroma which arising from the tail of the inferior turbinate in the right nasal cavity.

OBJECTIVE: Stage IVb juvenile nasopharyngeal angiofibromas (JNAs) are frequently regarded as unresectable because of their intracranial extension and cavernous sinus invasion. Although radiation has been described to control these tumors, it can leave the adolescent with long-lasting sequelae. Herein, we describe an alternative treatment strategy based on a combined subtemporal-transfacial surgical approach that permits the successful management of advanced stage JNAs by divorcing the intracranial vascular supply to these massive lesions. PATIENTS: Four male patients were identified with Andrew's Stage IVB JNAs. INTERVENTION: All patients were treated by surgical resection using a combined subtemporal-transfacial surgical approach. MAIN OUTCOME MEASURES: Parameters assessed included tumor extent, number and types of surgical procedures, extent of resections, complications, and recurrence rate. RESULTS: Near-total tumor resections were achieved in all patients. No cerebrospinal fluid leak or cranial neuropathies were noted. All but one patient had local recurrences, and these could be managed with repetitive endoscopic debridement. No patient required adjuvant radiation treatment to control advanced disease. CONCLUSIONS: With the use of modern skull base surgical techniques, coordinated interdisciplinary care, and safe, near-total removal of the tumor mass, adolescent males with advanced JNAs may be spared the long-term morbidities associated with using radiation to treat these benign but aggressive lesions.

Tuberous sclerosis complex (TSC) is a rare inherited disease that affects many organs and tissues, which explains the diversity of its clinical manifestations. This disease is often diagnosed at an early age when cutaneous angiofibromas, epilepsy and mental retardation are associated. The hepatic involvement in this phakomatosis is an uncommon location. In this context, we report the case of a tuberous sclerosis revealed in adulthood by abdominal pain and distension related to renal and hepatic angiomyolipomas associated with typical skin lesions.

Background Tuberous sclerosis is an autosomal dominant disorder with hamartomas in multiple organ systems. Facial angiofibromas (AF) are a common cutaneous manifestation of tuberous sclerosis. They may lead to significant cosmetic and psychological problems. Many treatment modalities have been used with variable satisfaction. Fractional photothermolysis (FP) is a novel concept of laser therapy, which induces non-contiguous microscopic thermal injury. Objective This study was designed to evaluate the efficacy and side effects of Nd:YAG laser treatment for facial AF by using spot-like irradiation technique similar to FP. Materials and methods Twelve patients (skin types III–IV, aged 17–45 years) with facial AF received monthly treatment with Nd:YAG laser in a pinpoint coagulation fashion. Clinical improvements were evaluated in five categories. Side effects were monitored at each follow-up visit. Results Excellent improvement was seen in 10 patients and good improvement in two at one month after the final treatment session. After 12 months of follow-up, no patient had significant recurrence of AF. Five patients were followed up for three years with few pinpoint-sized regrowth occurring; none of these patients received additional treatments. Side effects included transient erythema and edema in each patient but no bleeding, infection, dyspigmentation, or scarring. Conclusions The present study indicates that Nd:YAG laser is an effective and safe management for the fractional treatment of facial AF.

Endovascular procedures for benign head and neck tumors include embolization, stenting, and balloon test occlusion. A transarterial (or endovascular) approach forms the mainstay of treatment for head and neck bleeding as well as for transarterial chemotherapy for head and neck neoplasms. A combination of percutaneous and transarterial approaches may be needed in the embolization of high-flow craniofacial vascular malformations (VMs) and hypervascular tumors. This is a review of the current clinical applications of a variety of percutaneous and endovascular interventional procedures of the extracranial head and neck. The tumors that require embolization in the head and neck most commonly include glomus tumors, angiofibromas, and meningiomas. Many other types of tumors that may also require preoperative embolization include the following: hypervascular metastases, esthesioneuroblastomas, schwannomas, rhabdomyosarcomas, plasmacytomas, chordomas, and hemangiopericytomas. The goal of tumor embolization is to selectively occlude the external carotid artery (ECA) feeders through intratumoral deposition of embolic material. The embolic agents in common use are polyvinyl alcohol (PVA), Embospheres (BioSphere Medical, Rockland, Mass), liquid embolic agents (glue, ethylvinyl alcohol copolymer [EVOH], or Onyx [ev3, Irvine, Calif]), gelatin sponge (Gelfoam; Phadia, Uppsala, Sweden), and coils. The embolization is ideally performed 24-72 hours before surgical resection to allow maximal thrombosis of the occluded vessels and prevent recanalization of the occluded arteries or formation of collateral arterial channels. Preoperative embolization is cost-effective and tends to shorten operation time by reducing blood loss and the period of recovery.

WOS: 000330078200004, PubMed ID: 23714961, Juvenile nasopharyngeal angiofibromas are locally growing and highly vascular tumors. They are primarily treated through surgical excision ranging from an open approach to an endoscopic approach. We presented a 20-year-old man with a giant juvenile nasopharyngeal angiofibroma that bilaterally obliterated the pterygopalatine fossa, invaded the sphenoid bone, and extended to the left nasal passage. His complaints were epistaxis and nasal obstruction. After embolization, the patient was treated surgically using the endoscopic approach and declared cured and discharged without any complications., OLAO NIH HHS [HHSN263201200011I]

To describe the endoscopic transnasal approach to the infratemporal fossa (ITF) and upper parapharyngeal space (UPS) and to analyze the indications and outcomes of this surgical technique in the management of the tumors localized in this critical area.Case series with chart review.Tertiary-care referral center.Retrospective review of patients with benign and malignant tumors arising in or extending to the ITF and UPS, treated from 2002 to 2012 at a single institute. The tumors were surgically resected using an endoscopic endonasal transpterygoid transmaxillary approach.Thirty-seven consecutive patients with benign tumors (20 juvenile nasopharyngeal angiofibromas, 2 extracranial trigeminal Schwannomas, 2 meningiomas, 1 cavernous hemangioma) and nonmetastatic malignant tumors (2 adenoid-cystic carcinoma, 1 mucoepidermoid carcinoma, 1 squamous cell carcinoma, 1 adenocarcinoma, 1 recurrence of chondrosarcoma, and 6 recurrences of undifferentiated carcinoma of nasopharyngeal type) were treated with curative intent. A gross-total resection was achieved in 35 of 37 patients. Major complications were observed in 1 case (intraoperative internal carotid artery blowout). Postoperatively, 8 patients received some form of adjuvant treatment. Mean follow-up was 30 months for malignancies and 60 months for benign tumors. All patients are now alive without recurrences. Stable intracranial persistence of disease was reported in 2 cases (1 meningioma and 1 adenoid-cystic carcinoma).The purely endoscopic endonasal technique may provide a minimally invasive and safe approach to radically resect selected tumors involving the ITF and UPS. Larger case series and longer follow-up are needed to validate the reproducibility and efficacy of this technique.

We report the unusual occurrence of a cellular angiofibroma in prostatic tissue. In this case, a 84-year-old man presented in the emergency room with urinary retention. Ultrasound revealed an enlarged prostate, which was suggestive for benign prostatic hyperplasia. The patient was treated with a Millin retropubic prostatectomy. Macroscopically the prostate contained multiple circumscribed nodules. Microscopic examination of the tumor showed the appearance of cellular angiofibroma, consisting of bland spindle cells and prominent, hyalinized vessels. The diagnosis was supported by FISH, which revealed monoallelic loss of RB1/13q14 region, as seen in spindle cell lipoma, (extra-) mammary myofibroblastoma, and cellular angiofibroma. Cellular angiofibromas are rare, benign soft tissue tumours and were never reported in the prostatic gland. ispartof: Case reports in pathology vol:2014 ispartof: location:United States status: published

Tuberous sclerosis complex is an autosomal dominant disorder that can cause nonmalignant hamartomas in any organ. Angiofibromas are the most disturbing marker of the disease because they are conspicuously present on the face. We report the case of a 15-year-old girl affected by tuberous sclerosis, whose facial angiofibromas were satisfactorily treated by a green light vascular laser (532 nm).

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

The common variant of angiofibromas of head and neck region is juvenile nasopharyngeal angiofibroma (JNA). However extranasopharyngeal angiofibromas (ENAF) occurs very rarely at any age in either sex, and they differ from classical JNA in incidence, clinical and radiological presentation. They form the differential diagnosis for any mass nose or nasal polyp. We present a case of recurrent angiofibroma of ethmoid region presented with recurrent lesion with bilateral proptosis and bossing of forehead. MRI showed involvement of bilateral nasal cavities, ethmoids and frontal sinuses with erosions of ethmoid roof and posterior table of frontal sinuses. Entire mass was excised by craniofacial resection which was histopathologically confirmed as Angiofibroma.

In the current report we present three cases of solitary fibrous tumors of the orbital area that we have seen in a relatively short lapse of time. Most periocular tumors formerly identified as soft tissue hemangiopericytomas, are currently recognized as solitary fibrous tumors, and probably hemangiopericytomas, solitary fibrous tumors, giant cell angiofibromas and fibrous histiocytomas are actually the same tumour, despite some morphologic and immuno labeling variations.

Fibrous papules of the face are hamartomas characterized by stellate-shaped stromal cells, multinucleated giant cells, and proliferative blood vessels in the dermis. The pathogenesis of fibrous papules remains unclear. There is a striking microscopic resemblance between fibrous papules and tuberous sclerosis complex (TSC)-associated angiofibromas. A germline mutation of the TSC1 or TSC2 gene, leading to activation of the mammalian target of rapamycin (mTOR) pathway, accounts for the pathogenesis of TSC-associated angiofibromas. Activated mTOR subsequently activates p70 ribosomal protein S6 kinase (p70S6K) and ribosomal protein S6 (S6) by phosphorylation. Rapamycin, a mTOR inhibitor, is effective in treating TSC-associated angiofibromas. The aim of this study was to understand whether the mTOR pathway is activated in fibrous papules. We studied immunoexpressions of phosphorylated (p-) mTOR effectors in fibrous papules, TSC-associated angiofibromas, and normal skin controls. P-mTOR, p-p70S6K and p-S6 were highly expressed in dermal stromal cells and epidermal keratinocytes in fibrous papules and TSC-associated angiofibromas but not in fibroblasts and epidermal keratinocytes of normal skin controls (p

Background: Facial angiofibromas in tuberous sclerosis have been managed with various treatment modalities, including carbon dioxide (CO 2 ) laser resurfacing. Objective: Our purpose was to perform a long-term clinicopathologic assessment of CO 2 laser treatment of angiofibromas. Methods: This was a retrospective case review of 10 patients treated with a scanning CO 2 laser to flatten lesions. Baseline clinical photographs and those taken at 6, 12, and 24 months after the operation were assessed by a blinded observer. Patients also evaluated outcomes. Biopsy specimens taken immediately and at 4 months after the operation were reviewed. Results: Three groups of patients were identified: the first comprised 2 patients with sustained excellent and good outcomes. A second group (3 patients) had excellent outcomes in the early and medium term but then demonstrated partial deterioration. The last group (5 patients) had a range of early results with invariably poor outcomes at 24 months. In contrast, patients' self-assessment at 24 months was good or excellent in 8 of 10 cases. All biopsy specimens taken immediately after the procedure demonstrated ablation extending into the papillary dermis. Residual angiofibromas were present in 6 biopsy specimens. At 4 months, all biopsy specimens showed a band of superficial dermal fibrosis, but distinguishing between this and adjacent angiofibromas was often difficult. Long-term side effects included 2 cases of subtle hypopigmentation. Conclusion: The long-term results of CO 2 laser treatment of angiofibromas are unpredictable. The marked improvement obtained at 6 months is sustained in only a minority of cases at 24 months. Despite this, patient satisfaction appears relatively high. Initial clinical improvement may be the result of a combination of destruction of angiofibromas and their sequestration under postoperative fibrosis. The benefits of therapy should be weighed against both early morbidity and the risks of long-term complications such as scarring and hypopigmentation. (J Am Acad Dermatol 2001;45:731-5.)

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.

Extranasopharyngeal angiofibromas are rare tumors with only 65 cases being reported in the world literature. The most common sites involved are maxillary sinus, ethmoid sinus, sphenoid sinus, nasal septum, middle turbinate, inferior turbinate, cheek, conjunctiva, pterygomaxillary fissure, infratemporal fossa and laryngotracheal tree. We report on a case of 18 years old male patient of extranasopharyngeal angiofibroma of nasal septum.

Surgery after pre-operative embolization has become the main treatment modality in angiofibroma therapy. As surgical planning is based on precise pre-operative tumour evaluation, knowledge of the characteristic growth patterns is of great interest. Analysis of tumour extension and blood supply, as well as methods of controlling intra-operative bleeding, help in determining the appropriate surgical approach. Though benign, angiofibroma demonstrates a locally aggressive nature. This fibrovascular tumour is characterised by typical radiological findings and by predictable growth patterns. The tumour extension and blood supply can be accurately determined by CT, MR imaging and angiography. With classic radiological findings, no pre-operative biopsy is necessary in most angiofibromas. Advances in radiological imaging have contributed to improved surgical planning and tumour resection. The surgeon is able to select the least traumatic approach with secure haemostatic control, which is also critical for avoiding the disturbance of facial skeletal growth in this group of young patients. Embolization, pre-operative autologous donation and the cell saver system for immediate retransfusion of the collected blood after filtration, are important tools for dealing with blood loss in angiofibroma surgery as they minimize homologous blood transfusion.

Objectives Review of preoperative evaluation, surgical management, and outcome of patients operated on for nasopharyngeal angiofibroma using lateral infratemporal fossa approaches. Study design Retrospective review of 20 patients with either extensive (Fisch class IIIa to IVb, n = 17) or less massive (Fisch class II, n = 3) nasopharyngeal angiofibromas. Analysis of preoperative radiologic classification and angiography and description of indications and surgical techniques of the infratemporal fossa approaches types C and D. Evaluation of the surgical morbidity and radicality of tumor removal. Methods Clinical data were obtained from medical records from 1987 to 1994. Tumor classification, preoperative symptoms, type of surgery, and neuroradiologic and surgical complications were evaluated. The completeness of tumor removal was assessed using postoperative magnetic resonance imaging. Results Temporary visual disturbance or headache, or both, was seen in two of 20 patients after superselective tumor embolization, and further visual diminution was observed in one of six patients after balloon occlusion of the internal carotid artery. Radical resection was obtained in 80% of the cases. The infratemporal fossa type C approach was used in 16 of the cases, with type D approaches used in the other four. There were no deaths. The major morbidity was the conductive hearing loss associated with the type C approach. Conclusions Preoperative embolization (and balloon occlusion in selected cases) remains an important adjunct with minimal morbidity. The lateral infratemporal fossa approaches yield a high rate of radical tumor removal (80%) and a low rate of recurrence (6%). If applicable, the type D approach avoids the conductive hearing loss but allows direct tumor access into the infratemporal and pterygopalatine fossae.

OBJECTIVE AND IMPORTANCE: Intracranial fibromatous tumors are very rare lesions, with few reported cases. CLINICAL PRESENTATION: We report the case of a 34-year-old male patient who experienced seizures resulting from a cystic lesion in the left occipital region, which remained unchanged for 11 years. After the seizures increased in number, magnetic resonance imaging revealed a large cyst with a tumor nodule. INTERVENTION: A left occipital craniotomy was performed, and the tumor was removed. Pathological studies, including immunohistochemical and ultrastructural analyses, indicated that this neoplasm was composed of fibrous and angiomatous components, and a diagnosis of cerebral angiofibroma was established. CONCLUSION: Cerebral and meningeal fibromas are rare neoplasms that differ from solitary fibrous tumors and fibrous meningiomas. When a number of prominent blood vessels are present in a cerebral or meningeal fibroma, a diagnosis of angiofibroma can be considered. It is possible that some nodular brain tumors that were previously described as meningio-angiomatosis could be reclassified as cerebral or meningeal angiofibromas.

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.

SummaryThe use of rigid endoscopes in paranasal sinuses, nasopharynx and skull base surgery has extended and diversified, specifically for the treatment of malignant lesions of the nose and paranasal sinuses. We have endoscopically treated 33 patients with tumours of the skull base, paranasal sinuses and nasopharynx during the last 8 years (five patients with juvenile nasopharyngeal angiofibromas and 28 patients with various malignant tumours and T-classification). Endoscopic tumour surgery can be performed in patients of all age groups, even in the first days of life, using endoscopes of different diameters. Cosmetic results are excellent; there is no disfiguration of the face. Functional results are also excellent in terms of: organ preservation, minimal morbidity and rapid postoperative recovery and short hospitalisation. All these factors are essential for the patienťs quality of life. Limitations of this technique, however, are found at the anatomical borders of the paranasal sinuses, when a tumour e...

Imaging of the oral cavity and pharynx often is required in three settings: assessment of an inflammatory mass in association with odontogenic, tonsillar, or pharyngeal infections; determination of the cause of a submucosal mass; and staging of squamous-cell carcinomas. Spread of infection from the oral cavity and pharynx can lead to abscesses in the masticatory space, the retropharyngeal compartment, and in a parapharyngeal location. Submucosal masses include congenital cysts (thyroglossal and dermoid), benign neoplasms (hemangioma, schwannomas, pleomorphic adenomas juvenile angiofibromas), inflammatory cysts (mucous retention cysts, ranulas), and pseudotumors (osteophytes, carotid arteries). Staging of squamous-cell carcinomas must focus on deep invasion, spread to the brain, nerves, mandible, prevertebral muscle, and pre-epiglottic fat.

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.

Juvenile nasopharyngeal angiofibroma arises almost exclusively in pubertal and adolescent men and has potentially aggressive behavior with a spread into adjoining sinuses and bone destruction. It is classically being regarded as an androgen hormone-dependent tumor, but no in situ evaluation of androgen receptors has been done. The author has examined eight nasopharyngeal angiofibromas (six primary and two recurrent tumors) for the expression of androgen receptor (AR), estrogen receptor (ER) and progesterone receptor (PR) using immunohistochemical methods and compared those results with a sex- and age-matched control group consisting of eight samples of nasal turbinates. No ER or PR were found in any of the tumor components, nor have they been detected in control nasal turbinates. Angiofibromas were characterized by variable weak (+) nuclear androgen receptor immunoreactivity found in a minority of endothelial and stromal cells, similar to the normal turbinates. These results argue against the significant role of androgen receptor in the growth of nasal angiofibromas and corroborate previous observations of an unpredictable response of these neoplasms to antiandrogen therapy.

Angiofibromas are usually characterized by typical location with involvement of the posterior nasal cavity and nasopharynx. They are most commonly found in adolescent males. Despite these facts, a case of an angiofibroma presented in a 15-month-old boy at an atypical site anterior and medial to the lacrimal sac. The tumor was resected via an endonasal, micro-endoscopic approach avoiding an external incision.

Background Facial angiofibromas are present in most of the patients with the tuberous sclerosis complex and may cause severe disfiguration of the face. The tumor growth in tuberous sclerosis complex is promoted by the disinhibition of the mammalian target of rapamycin pathway. Thus, the systemic treatment with mammalian target of rapamycin inhibitors such as sirolimus and everolimus has recently been established to treat specific tuberous sclerosis complex–associated lesions. For patients who suffer from disfiguring facial angiofibromas only, there is a need for a topical use of mammalian target of rapamycin inhibitors. Sirolimus has been shown to be beneficial in treating facial angiofibromas. But the topical use of everolimus, which has the approval to treat tuberous sclerosis complex–associated tumors, namely giant cell astrocytomas and renal angiofibromas, has not been reported. Patients and Results We present a 10-year-old girl whose facial angiofibromas were successfully treated with an everolimus ointment without relevant side effects. In addition, we provide a short pharmacological overview of sirolimus and everolimus with focus on the topical use. Conclusions Topical everolimus seems to be a favorable and safe option for patients with facial angiofibromas who do not require systemic treatment.

The objective of this study was to evaluate the efficacy and outcome using the maxillary swing approach for the management of extensive nasopharyngeal angiofibromas. A retrospective analysis in a tertiary care center revealed five cases with extensive nasal angiofibromas operated using the maxillary swing approach between 2010 and 2012. All patients had tumor extension to the lateral-most portions of the infratemporal fossa with complete occupation and destruction of the lateral wall of the sphenoid sinus causing abutment to the cavernous sinus and complete involvement of the pterygopalatine fossa and pterygoid base. One patient displayed full occupancy of the maxillary sinus as a consequence of erosion of the posterior and medial walls of the maxillary sinus, while another had severe temporal lobe compression through the roof of the infratemporal fossa. All patients underwent tumor excision using the maxillary swing approach. Patients were followed up for a minimum period of 1 year after surgery. The maxillary swing approach gave optimal exposure of the entire central skull base including the infratemporal fossa and its extreme lateral and superior aspects. Adequate tumor exposure and vascular control could be achieved in all cases resulting in complete tumor excision. The mean operative time was 4.5 h. Post-operative healing was satisfactory with palatal fistula formation in two cases and all patients remaining disease-free up to the present time. One had minimal misalignment of the halves of the upper jaw and two had epiphora, of which one required dacryocystorhinostomy. The maxillary swing is an effective approach in the management of extensive nasopharyngeal angiofibromas and leads to optimal anatomical exposure with minimal morbidity.

PubMed: 24010805 Angiofibroma of extranasopharyngeal origin is very rare. Although it is usually originated from any mucosal structure in the head and neck region, maxilla is the most common involvement site. The nasal septum is an exceptional anatomic site of an angiofibroma. Surgery is the best treatment modality and recurrence is very rare. Nasal septal angiofibromas must be considered in the differential diagnosis of nasal vascular masses arising from the nasal septum. In this article, we report a 37-year-old male case with nasal septal angiofibroma who underwent surgical resection of the tumor. This is the 16th case in the literature.

Nasopharyngeal masses in the pediatric population are quite rare, and the majority of these are benign. In adolescent boys, there should be a high index of suspicion for juvenile nasopharyngeal angiofibromas. When malignant, the most common lesions encountered are rhabdomyosarcomas, carcinomas, and lymphomas. We report a single case from a tertiary care institution of an adolescent male with an unusual presentation of a benign nasopharyngeal mass and provide a comprehensive review of pediatric nasopharyngeal masses. Whenever possible, radiographic imaging should be obtained, in addition to biopsy, to assist in the diagnosis of pediatric nasopharyngeal masses.

Multiple facial angiofibromas are thought to be a pathognomonic and common, feature of tuberous sclerosis. In contrast, it is rare to see multiple angiofibromas limited to one side of the face. We have studied a patient with multiple angiofibromas of one cheek, in order to search for other manifestations of tuberous sclerosis and to determine the histochemical identity of the angiofibromas. No evidence of other pathology known to be associated with the tuberous sclerosis complex was uncovered. Histopathology of the unilateral lesions revealed focal fibroplasia and positive cellular staining for factor XIIIa and vimentin, similar to that described for bilateral angiofibromas. We suggested that the segmental expression of tuberous sclerosis, in the form of unilateral facial angiofibromas, may result from a postzygotic mutation.

The angiofibroma of tuberous sclerosis is associated with a proliferation of dermal spindle cells that have been considered to be fibroblasts on the basis of a variety of techniques, although some cells have a glial appearance. This study of six angiofibromas demonstrated an increase in S100-positive, peanut agglutinin-negative spindle cells in the dermis in addition to increased numbers of epidermal melanocytes. The second major spindle cell population in the dermis proved to be dermal dendrocytes based on their expression of factor XIIIa. The number of these cells decreases in older patients, in whom the lesions were generally less cellular and more fibrotic. The angiofibroma of tuberous sclerosis is a hamartoma involving increased numbers of dermal dendrocytes, neurosustentacular cells, blood vessels, and melanocytes, in addition to collagen.

Foreign bodies in the maxillary sinus are common. Those reported include teeth and their roots, dental impressions, needles, and a spear among others. l They have been introduced either iatrogenically or through facial trauma. In this paper, we describe scissor blades traversing both maxillary sinuses and floor of nose, necessitating wide midfacial exposure for removal. Therefore, we chose a midface degloving approach. Although publications describing this procedure are scarce, various similar accesses to the paranasal areas have been used for years. Sublabial approaches were described originally by Caldwell and Luc in 1893. In 1910, a bilateral sublabial incision was popularized by Halstead for pituitary fossa surgery.z In 1950, Converse began using sublabial incisions combined with transfixion and nasal intercartilaginous incisions to expose the middle third of the face, and this technique was described by Casson et al in 19i’4.3 More recently, Conley in 1979,* and Maniglia in 1986,5 reported their techniques and experience with this approach. Most of the relatively scarce literature compares the midfacial degloving with other methods of providing access to the nose and paranasal structures. Indications have included angiofibromas, inverted papillomas, sinus cysts, adenocystic carcinoma, and other benign and malignant conditions. To our knowledge, the unsurpassed bilateral exposure has not before been required for a foreign body extraction.

her brain as well as in numerous other organs. 1 In time, additional patients with this inherited disease were studied and found to have benign tumors in virtually every organ, including the brain (cortical tubers, subependymal nodules, and giant cell astrocytomas), eyes (retinal hamartomas), kidneys (angiomyolipomas, cysts), heart (cardiac rhabdomyomas), lungs (lymphangioleiomyomatosis), and skin. Recent molecular investigations have revealed that this potpourri of seemingly unrelated findings, called tuberous sclerosis complex (TSC),results from a dysregulated signaling pathway. These discoveries have profound clinical implications. The skin is paradigmatic for TSC. TSC presents a variable clinical picture, and the skin lesions are no less variable. TSC skin lesions range from subtle to disfiguring. A patient may have one or several types of skin lesions, and each type may be single or multiple. Many of the skin and internal tumors in TSC are hamartomas that are highly vascular. Both skin tumors and internal tumors occur in characteristic locations with typical ages of onset. Proclivity of skin tumors for certain regions of the body is indicated by the names of lesions, such as facial angiofibromas, periungual fibromas, and forehead plaques. In contrast, hypopigmented macules seemingly occur at random locations, and exhibit differences in size and shape (ash leaf vs confetti-like), location (hypopigmented macule vs poliosis), and extent. Hypomelanotic macules are typically present at birth or appear during early infancy. Angiofibromas usually develop at about 3 to 5 years, while periungual fibromas emerge in the teen years or later. 2 Skin lesions may be a presenting feature and can form the basis for the diagnosis of TSC. Among the diagnostic criteria, mucocutaneous lesions comprise 4 major features (angiofibromas or forehead plaque, subungual or periungual fibromas, hypomelanotic macules, and the shagreen patch) and 3 minor features (confetti-like hypopigmentation, gingival fibromas, and multiple dental pits). 3 These 1998 criteria were modified from earlier versions to accommodate recent observations. Multiple facial angiofibromas are no longer considered pathognomonic for TSC, as they are also observed in multiple endocrine neoplasia type 1. More than 3 hypomelanotic macules must be observed to qualify as a major feature of TSC, because solitary lesions are commonly observed in the general population. Finally, consideration is given to the fact that single ungual fibromas may occur in the general popu

We are reporting an atypical and very rare clinical case of nasal angiofibroma in a 60 year-old female who presented with recurrent epistaxis and nasal blockage. The tumour was located on the right inferior turbinate C.T scans., M.R.I. and Angiography were required as complementary studies. After trying without success a previous arterial embolization, the patient underwent surgery by Functional Endoscopic Nasal Surgery (F.E.N.S.) with removal of the mass in the right nasal fossa. The anatomopathologic result confirmed the histology of angiofibroma and the clinical evolution was satisfactory. Angiofibromas in women and in general in adults are exceptional as we have verified through a literature review.

Tuberous sclerosis is a neurocutaneous syndrome with an autosomal dominant inheritance. Tuberous sclerosis complex Syndrome caused by mutations of either the TSC1 orTSC2 gene encoding hamartin and tuberin respectively. It is characterized by the development of benign tumors; the most common oral manifestations of TSC are fibromas (angiofibromas), gingival hyperplasia and enamel hypoplasia and the formation of hamartomas in multiple organ systems leading to morbidity and mortality. Familial tuberous sclerosis probably occurs more often than is indicated by the literature: many family members show signs of being carriers of gene for the disease when carefully examined. We report a case of 25 year old female with the features of Tuberous sclerosis complex like seizures, papules over the cheek, shagreen patch, hypomelanotic macule on arm, buttacks, pulmonary lymphangioleiomyomatosis, subependymal nodules and tubers in brain, angiomyolipoma in both kidneys and Cardiac rhabdomyoma. This article reports on a family with documented tuberous sclerosis in three generations.

Background Facial angiofibromas (FA) are the most visible of the cutaneous manifestations of tuberous sclerosis. Current treatments include laser and other invasive techniques. Topical rapamycin is a recent and unauthorised option to treat FA (off-label use) but a commercially available compound has not yet been developed. Purpose To evaluate the efficacy and safety of a pharmaceutical compound of topical rapamycin in a child with FA. Material and methods A retrospective review of the literature was conducted to select the vehicle, concentration and posology of the topical formulation. Topical 0.1% rapamycin in petrolatum using the powder from the manufacturer was the pharmaceutical compound selected. This concentration was proposed because it is an effective, efficient and safe therapy in pretreated children. The vehicle selected to prepare this topical preparation was petrolatum because treatment with topical rapamycin solution has reportedly caused local adverse side effects, such as irritation. The treatment was authorised by the hospital management, and the child´s parents were informed and provided informed consent. The authors evaluated efficacy through improvement of lesions and safety was evaluated by adverse effects at 3 months. Results A 6-year-old patient with FA was selected for treatment with topical 0.1% rapamycin in petrolatum twice daily to the affected areas on the face. In this patient there was an improvement and clearance of the lesions. No local irritation or serious adverse events were described. Rapamycin blood levels at 3 months were 1.02 ng/mL, far below the therapeutic range (5–15 ng/mL) needed for immunosuppression. The posology was reduced to three times a week instead of daily for maintenance. Conclusion Topical 0.1% rapamycin in petrolatum was an effective treatment for FA in this patient. The preparation formulated in petrolatum was well tolerated with no adverse effects. This pharmaceutical compound could be used as an effective option for treatment of FA in paediatric patients without serious adverse effects. It is necessary to establish how long treatment must be continued. References and/or Acknowledgements Balestri R, Neri I, Patrizi A, et al . Analysis of current data on the use of topical rapamycin in the treatment of FA. J Eur Acad Dermatol Venereol 2015;29:14-20 No conflict of interest.

Background Sirolimus is an immunosuppressant used with an off-label indication for angiofibromas in tuberous sclerosis. Purpose To evaluate the effectiveness of topical sirolimus 0.4% ointment for the treatment of angiofibromas in tuberous sclerosis. Material and methods Prospective study of 2 female patients (10 and 46 years old), diagnosed with tuberous sclerosis, which presented facial angiofibromas. The dermatology unit requested the preparation of a topical sirolimus 0.4% ointment, after unsuccessful non-pharmacological measures. We prepared the formulation, following a literature search, in a vertical laminar flow booth, by packaging in jars of ointment protected from light, conserved in ambient temperature with an expiration date of 2 months. The dermatologist monitored the effectiveness of the treatment by conducting authorised iconography at 3 and 6 months. Results Based on the information obtained in the research and because of the difficulty in obtaining raw materials, we elaborated sirolimus 0.4% ointment 20 g using 40 tablets of 2 mg sirolimus (Rapamune) which were milled and sieved to obtain fine powder. After that, mineral oil sufficient to dissolve the active substance and form a paste was added, and it was completed with petrolatum. Despite the sieving, the resulting formulation had a granulated texture due to the film coated tablets of Rapamune and patients noted difficulty in administration. To avoid this problem, we acquired sirolimus as a product from Acofarma SCI, improving the cosmetic appearance of the formulation and facilitating its elaboration. After 3 months, both patients reported a fewer number of lesions with less erythema, most evident during the first month of application, which was corroborated by the dermatologist by comparison with previous iconography. After 6 months of application, the improvement persisted, presenting even lower total numbers of lesions, with reduced erythema in the remaining angiofibromas, which were no longer palpable. Tolerance was excellent. Patients reported better cutaneous absorption and better cosmetic appearance of the second ointment, despite the fact that administration remained difficult due to the use of petrolatum (lipophilic). Conclusion Sirolimus 0.4% ointment was found to be effective for treating angiofibromas in tuberous sclerosis, as both patients had a decrease in the number, elevation and erythema of their angiofibromas. Formulation from the raw material improved its cosmetic appearance. Nevertheless, it would be interesting to develop a formula with hydrophilic excipients which facilitated administration and improved its organoleptic characteristics. No conflict of interest.

Introduction: Facial angiofibromas (FA) are the most visible cutaneous manifestations in patients with tuberous sclerosis (TS), often resulting in stigmatization of the affected individuals. Recent studies have suggested that topical rapamycin may be an effective treatment for angiofibromas. Aim: To study the safety and efficacy of topical rapamycin in treatment of FA in Type IV–VI skin type. Materials and Methods: Five female patients with FA were included in the study, four of whom had TS, whereas one had isolated angiofibromas without systemic involvement. The age of the patients varied from 6 to 44 years. After baseline evaluation, they were advised to apply topical rapamycin (0.1–1%) in white soft paraffin base twice daily. Follow-up varied from 1 month to 6 months and is ongoing. Results: A sustained improvement was observed with respect to erythema, size as well as extent of the lesions as early as within 2 weeks of starting treatment. No side effects were observed. A correlation between duration of angiofibromas and effectiveness of treatment was noted. Conclusion: Topical rapamycin appears to be a safe and effective alternative to surgical or laser-based treatments in patients with FA. This treatment shows potential to be a first-line management for FA and appears safe to start in early childhood.

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