Facial unilateral angiofibromas: a postzygotic tuberous sclerosis like mutation.
نویسندگان
چکیده
Sir, Facial angiofibromas are flesh colored or red papules located centrofacially, especially on the nose, cheeks, and chin and represent a major criterion of tuberous sclerosis (TS). Unilateral facial angiofibromas (UFA) have been occasionally reported in literature. We present a case of UFA in a 36-year-old patient without other features of TS, review each case of previously described UFA and discuss the possible pathogenetic mechanism supporting the occurrence of these skin tumors.
منابع مشابه
Segmental tuberous sclerosis in a patient presenting as unilateral facial angiofibromas, periungual fibromas and Shagreen patch.
Tuberous sclerosis (TS) known as Epiloia and Bourneville's disease is an autosomal dominant inherited disorder that can affect many organ systems. Tuberous sclerosis has many forms of clinical presentation. Rarely, multiple facial angiofibromas of unilateral distribution have been reported. We describe a patient with unilateral facial angiofibromas, periungual fibromas and Shagreen patch.
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Facial angiofibromas are a common cutaneous manifestation of tuberous sclerosis complex. Although angiofibromas are usually asymptomatic, they can be highly disfiguring and can have a significant impact on patient quality of life. Treatment for facial angiofibromas is challenging. Recently, topical rapamycin has been proposed as an effective option to treat angiofibromas. Herein is reported a c...
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Tuberous sclerosis complex Syndrome (TSCs) is an autosomal dominant disorder affecting multiple organs; caused by mutations of either the TSC1 or TSC2 gene encoding hamartin and tuberin respectively. It is characterized by the development of benign tumours affecting different body systems. The most common visible manifestations of TSC are facial angiofibromas and the formation of hamartomas in ...
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متن کاملCurrent options for the treatment of facial angiofibromas.
Facial angiofibromas are hamartomatous growths that are closely associated with tuberous sclerosis complex and, in fact, they constitute one of the main diagnostic criteria for that disease. These lesions composed of blood vessels and fibrous tissue appear on the face at an early age. Since they have important physical and psychological repercussions for patients, several treatment options have...
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ورودعنوان ژورنال:
- Indian journal of dermatology, venereology and leprology
دوره 77 6 شماره
صفحات -
تاریخ انتشار 2011