Brooke-Spiegler syndrome

cylindromatosis

(sil-in-drō'mă-tō'sis), A rare genetic disorder [MIM#132700] characterized by the formation of numerous benign papules and nodules arising from skin adnexal structures and occurring principally on the face and scalp. When lesions are confluent the condition is called a "turban tumor." Synonym(s): Brooke-Spiegler syndrome, familial cylindromatosis, turban tumor syndrome

Brooke-Spiegler syndrome

An autosomal dominant OMIM 605041 condition characterised by multiple skin adnexal tumours (cylindromas, trichoepitheliomas and spiradenomas), typically located in the head and neck region, and basal cell adenomas of salivary glands.
Molecular pathology
Caused by a mutation in CLYD, a tumour-suppressor gene that encodes a deubiquitinating enzyme, which inhibits NF-kB activation.

单词	brooke-spiegler syndrome
释义	Brooke-Spiegler syndrome cylindromatosis (sil-in-drō'mă-tō'sis), A rare genetic disorder [MIM#132700] characterized by the formation of numerous benign papules and nodules arising from skin adnexal structures and occurring principally on the face and scalp. When lesions are confluent the condition is called a "turban tumor." Synonym(s): Brooke-Spiegler syndrome, familial cylindromatosis, turban tumor syndrome Brooke-Spiegler syndrome An autosomal dominant OMIM 605041 condition characterised by multiple skin adnexal tumours (cylindromas, trichoepitheliomas and spiradenomas), typically located in the head and neck region, and basal cell adenomas of salivary glands. Molecular pathology Caused by a mutation in CLYD, a tumour-suppressor gene that encodes a deubiquitinating enzyme, which inhibits NF-kB activation.
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