Ancell-Spiegler cylindromas (turban tumours) and Brooke-Fordyce Trichoepitheliomas: evidence for a single genetic entity.
نویسندگان
چکیده
منابع مشابه
Brooke-Spiegler Syndrome: A Rare Entity
Brooke-Spiegler syndrome is a rare entity. It is an autosomal dominant syndrome in which multiple trichoepitheliomas, cylindromas, or other adnexal tumors are seen. Very few cases of Brooke-Spiegler syndrome are reported in the literature. We came across a 40 -year-old female in which multiple trichoepitheliomas and cylindromas were seen on scalp. In view of clinical history and histopathologic...
متن کاملBrooke-Spiegler Syndrome with Multiple Scalp Cylindromas and Bilateral Parotid Gland Adenomas
A 62-year-old female presented with numerous soft tissue lesions of her scalp and bilateral preauricular region. Several of these have been biopsied or removed with a diagnosis of cylindromas. Cylindromas are benign tumors with a differentiation towards apocrine sweat glands that increase in number and size throughout life. Multiple scalp cylindromas may coalesce and cover the entire scalp, res...
متن کاملSyndrome in question*
Brooke-Spiegler syndrome is an autosomal dominant disorder with variable penetrance and expression. It is characterized by a genetic predisposition to develop multiple adnexal neoplasias: cylindromas, trichoepitheliomas, and trichoblastomas. We describe a 54-year-old male patient with cylindromas, trichoepitheliomas, and trichoblastoma.
متن کاملBrooke-Spiegler Syndrome: A Case Report
Page 19 Abstract Brooke-Spiegler syndrome (BSS) is a rare, inherited, autosomal-dominant genodermatosis characterized by the development of multiple adnexal cutaneous tumors including spiradenomas, cylindromas, spiradenocylindromas, trichoepitheliomas, epidermoid cysts, and milia. We present a case of Brooke-Spiegler syndrome with possible malignant transformation of a benign tumor. Brooke-Spie...
متن کاملHeterozygous Cylindromatosis Gene Mutation c.1628_1629delCT in a Family with Brook-Spiegler Syndrome
Brooke-Spiegler Syndrome (BSS) is a rare genodermatosis characterized by the progressive formation of adnexal skin tumors in the scalp and face, mainly trichoepitheliomas, cylindromas, and spiradenomas. It has also been associated with salivary glands neoplasms. It is due to mutations in the tumor suppressor gene cylindromatosis (CYLD gene) localized on chromosome 16q12-q13. Around 93 mutations...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 5 1 شماره
صفحات -
تاریخ انتشار 1968