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."

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.
References in periodicals archive ?
Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler Syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens.
Radiation, hyperthermic limb perfusion chemotherapy, and chemotherapy are used in the treatment of malignant spiradenomas, the mainstay of treatment of spiradenomas and malignant spiradenomas is surgical removal, Mohs micrographic surgery offers the most conservative treatment choice Multiple spiradenomas, such as those found in Brooke-Spiegler syndrome can be treated with a high-energy continuous wave carbon dioxide laser after debulking with bipolar scissors.
Rarely, syringoma may be associated with the Brooke-Spiegler syndrome, an autosomal dominant disease characterized by the development of multiple cylindromas, trichoepitheliomas, and occasional spiradenomas.