Familial Facial disfigurement in Multiple Familial Trichoepithelioma
نویسندگان
چکیده
منابع مشابه
Familial Facial disfigurement in Multiple Familial Trichoepithelioma.
Trichoepithelioma is an uncommon, benign hamartomatous tumor of the pilosebaceous follicle. Presenting as multiple papules and nodules on face and neck, they pose a significant cosmetic problem in affected individuals. Familial involvement of this dermatosis occurs in an autosomal dominant pattern, the locus being located on chromosome 9p21, which causes multiple facial lesions in family member...
متن کاملMultiple familial trichoepithelioma: confirmation via dermoscopy
Trichoepitheliomas are uncommon benign adnexal neoplasms that originate from the hair follicles. Multiple familial trichoepithelioma constitute an autosomal dominant disease characterized by the appearance of multiple flesh-colored, symmetrical papules, tumors and/or nodules in the central face and occasionally on the scalp. Although clinical diagnosis is usually straightforward in light of the...
متن کاملA novel missense mutation in the CYLD gene in a Spanish family with multiple familial trichoepithelioma.
B rooke-Spiegler syndrome (BSS) includes the combination of spiradenomas, cylindromas, and trichoepitheliomas. It has been postulated that BSS results from defects in the regulation of putative stem cells of the folliculosebaceous-apocrine unit. This follicular dysregulation may give rise to 3 different genodermatoses: familial cylindromatosis (FC), multiple familial trichoepithelioma (MFT), or...
متن کاملMultiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene.
The recessive oncogene cylindromatosis (CYLD) mapping on 16q12-q13 is generally implicated in familial cylindromatosis, whereas a gene region for multiple familial trichoepithelioma has been assigned to 9p21. Markers from both chromosome intervals were subjected to linkage analysis in a large family with multiple hereditary trichoepithelioma (TE) from Algeria. Linkage to 9p21 was excluded, wher...
متن کاملMalignant transformation of multiple familial trichoepithelioma: case report and literature review.
Patients with the autosomal-dominant form of multiple familial trichoepithelioma develop numerous tumours on the face, neck and upper trunk, beginning in childhood. Malignant transformation of such lesions is quite rare; only one case of "malignant trichoepithelioma" has been reported previously, inferring pilomatrix carcinoma on a histological observation. We report here the case of a patient ...
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ژورنال
عنوان ژورنال: JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
سال: 2013
ISSN: 2249-782X
DOI: 10.7860/jcdr/2013/6218.3830