Multiple Facial Angiofibromas Research Articles

BG14: Unilateral multiple facial angiofibromas as a solitary manifestation of tuberous sclerosis

BG14: Unilateral multiple facial angiofibromas as a solitary manifestation of tuberous sclerosis

Masquerading case of a lumpy bumpy face

Masquerading case of a lumpy bumpy face

Successful CO2 Laser Treatment of Facial Angiofibromas in a Female Patient with Tuberous Sclerosis: Case Report

Tuberous sclerosis (Morbus Bourneville-Pringle) is a rare, multisystemic,autosomal dominant disease, associated with a mutation of either of two genes TSC1 and TSC2, responsible for synthesis of proteins hamartin and tuberin - tumor growth suppressing factors, involved in cell proliferation and differentiation processes. Perhaps the most common findings of TS are angiophibromas - cutaneous manifestations of the disease, serving as clinical pointers to the diagnosis. Different methods are being used to treat facial angiofibromas with little or no success. Treatment with CO2 laser ablation can provide fruitful results in removing facial angiofibromas. Presented is a case of a 40 year-old female patient, diagnosed with tuberous sclerosis with multiple facial angiofibromas, subjected to CO2 laser ablation.

Topical sirolimus in facial angiofibroma

We represent a case of 11-year-male child with multiple facial angiofibromas who showed moderate improvement after application of 0.1 and 1% sirolimus. We evaluated the results clinically and dermoscopically.

Ablation of facial adenoma sebaceum using the Versajet™ Hydrosurgery System

Sebaceous adenomas, histologically facial angiofibromas, are closely associated with the tuberous sclerosis complex. The dermatologic disorder constitutes one of the main characteristics for that disease. The lesions commonly involve the central part of the face, including the cheeks, perioral region and nose with predominance in the nasolabial folds, causing a major cosmetic disfigurement. Aesthetic surgery of the face comprises different forms of ablative treatments using mechanical dermabrasion, shave excision, radiofrequency ablation, cryosurgery, laser therapy, and electrocoagulation. The use of Versajet™ Hydrosurgery System has not been previously described in the treatment of adenoma sebaceum so far. In this case report, we present the successful application of this hydrosurgical system in a patient with tuberous sclerosis and multiple facial angiofibromas indicating it as a feasible, effective, reliable, and economical treatment option. Level of Evidence: Level V, therapeutic study.

Topical rapamycin for angiofibromas in paediatric patients with tuberous sclerosis: Follow up of a pilot study and promising future directions

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.

Unilateral multiple facial angiofibromas: A case report with brief review of literature

Tuberous sclerosis (TSC) is an autosomal dominant hereditary condition with many varied forms of clinical presentation. The most frequent cutaneous findings in TSC include multiple angiofibromas, hypopigmented macules, periungual fibromas, and shagreen patch. Rarely, unilateral multiple facial angiofibromas have been reported. We report a case of unilateral multiple facial angiofibromas without any other manifestations of TSC. Although rare, unilateral multiple facial angiofibromas may be a mosaic form of TSC.

Hauttumoren als Markerläsionen hereditärer Tumorsyndrome

A number of hereditary tumor syndromes are associated with characteristic dermal neoplasms and knowledge and early diagnosis of these lesions may facilitate the diagnostic of the underlying syndrome. These syndromes include Muir-Torre syndrome, associated with cystic sebaceomas, Cowden syndrome, associated with multiple tricholemmomas, Carney complex associated with multiple superficial angiomyxomas, Birt-Hogg-Dubé syndrome associated with multiple fibrofolliculomas, tuberous sclerosis associated with multiple facial angiofibromas and so-called Koenen tumors, patients with renal cell cancer associated with pilar leiomyomatosis and uterine leiomyomas, Gardner syndrome associated with Gardner fibromas and nevoid basal cell carcinoma associated with multiple basal cell carcinomas in young patients.

Absence of signs of systemic involvement in four patients with bilateral multiple facial angiofibromas

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.

MEN1 family with a novel frameshift mutation

Multiple endocrine neoplasm type 1 (MEN1) syndrome predisposes to the development of endocrine and non-endocrine tumors with an autosomal dominant pattern of inheritance. Different mutations have been found throughout the gene with a variable phenotype expression. The proband, a Caucasian man, was admitted to our department in 2001, at the age of 51 because of a 1-yr history of diarrhoea and hypertension. He reported a previous intestinal resection for bowel occlusion with a histological diagnosis of unspecified mesenchymal neoplasia. He had also undergone a left adrenalectomy for a large nonfunctioning adrenal adenoma. Subsequently, he had suffered from gastralgia and melena; a gastroduodenoscopy showed an erosive gastritis. His family history was negative for endocrine disorders. On physical examination, multiple abdominal cutaneous lipomas and facial angiofibromas were observed. Biochemical screening revealed a primary hyperparathyroidism and an increase in circulating levels of PRL, chromogranin-A, gastrin and glucagon. The whole body computed tomography (CT) scan, the 111In-octreotide scan and the pituitary magnetic resonance imaging (MRI) did not reveal any abnormality. The presence of small neuroendocrine tumors was suspected by a positron emission tomography uptake in the epigastric region. The endoscopic ultrasound revealed a pancreatic lesion sized 1.1 cm that is under evaluation. Direct DNA sequencing analysis of the proband MEN1 gene revealed the 579delG frameshift mutation in the exon 3. The genetic screening of the family revealed the same mutation in 3 out of 5 offspring. The biochemical screening revealed some features of the MEN1 syndrome in all three of them. In conclusion, a novel frameshift MEN1 mutation was found in kindred with an apparently negative family history. Our experience confirms that MEN1 syndrome is a complex and underestimated condition, unless specifically investigated by trained specialists.

Multiple facial angiofibromas: A cutaneous manifestation of Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome (BHDS) is an uncommon autosomal dominant genodermatosis characterized by a triad of skin tumors--fibrofolliculomas, trichodiscomas, and acrochordons--together with an increased risk of renal tumors and spontaneous pneumothoraces. This report describes multiple facial angiofibromas as the predominant initial manifestation of BHDS. The patient had a total of 41 facial papules removed via shave excision, initially for diagnostic and then for therapeutic purposes; histologic evaluation revealed diagnostic features of angiofibroma in 39 lesions and fibrofolliculoma in only 2. BHDS should be considered, along with tuberous sclerosis and multiple endocrine neoplasia type 1, in the differential diagnosis of multiple facial angiofibromas, particularly when onset is in adulthood.

Hamartomas and tubers from defects in hamartin-tuberin

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

Segmental tuberous sclerosis presenting as unilateral facial angiofibromas

Tuberous sclerosis (TSC) is an autosomal dominant inherited disorder with cutaneous lesions of ash leaf hypopigmented macules, shagreen patches, periungual fibromas, facial angiofibromas, forehead fibrous plaques, confetti hypopigmentation, and poliosis. Multiple facial angiofibromas are a pathognomonic feature of TSC. Unilateral facial angiofibromas, however, represent a rare variant of TSC, as only 6 cases are reported in the literature. We describe a case of a 52-year-old man who presented with unilateral facial angiofibromas and poliosis without other features of TSC.

Unilateral multiple facial angiofibromas: A mosaic form of tuberous sclerosis

Tuberous sclerosis has many forms of clinical presentation. Rarely, multiple facial angiofibromas of unilateral distribution have been reported. We describe 2 patients with such a presentation and hypothesize that this is a mosaic form of tuberous sclerosis. (J Am Acad Dermatol 2000;43:127-9.)

Multiple Facial Angiofibromas and Collagenomas in Patients With Multiple Endocrine Neoplasia Type 1

To evaluate patients with multiple endocrine neoplasia type 1 (MEN 1) for cutaneous manifestations. Survey during a 3-year period. The National Institutes of Health, a tertiary referral research hospital in Bethesda Md. A consecutive sample of 32 individuals with previously diagnosed MEN1 who were not preselected for the presence of skin lesions were examined for cutaneous abnormalities. None of the patients or family members were diagnosed as having tuberous sclerosis. Lesions were identified by clinical appearance, photographed, and confirmed histologically. To determine the frequency of skin lesions in patients with MEN1. Multiple facial angiofibromas were observed in 28 (88%) of the patients with MEN1, with 16 patients (50%) having 5 or more. Angiofibromas were clinically and histologically identical to those in individuals with tuberous sclerosis. Collagenomas were observed in 23 patients (72%). Also observed were cafe au lait macules in 12 patients (38%), lipomas in 11 patients (34%), confetti-like hypopigmented macules in 2 patients (6%), and multiple gingival papules in 2 patients (6%). Multiple angiofibromas, collagenomas, lipomas, confetti-like hypopigmented macules and multiple gingival papules are cutaneous manifestations of MEN1 and should be looked for in both family members of patients with MEN1 and individuals with hyperparathyroidism of other MEN1-associated tumors. Multiple angiofibromas can no longer be considered pathognomonic for tuberous sclerosis. The observation of angiofibromas in individuals without tuberous sclerosis necessitates further biochemical testing for MEN1.

Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1

Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1

Unilateral facial angiofibromas-a segmental form of tuberous sclerosis

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.