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A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma
Agustín España, MD;
Fermin García-Amigot, PhD;
Leyre Aguado, MD;
Jesús García-Foncillas, MD
Arch Dermatol. 2007;143(9):1209-1210.
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Brooke-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.1 This follicular dysregulation may give rise to 3 different genodermatoses: familial cylindromatosis (FC), multiple familial trichoepithelioma (MFT), or the classic triad of BSS.
The gene for FC was mapped to chromosome 16q12-q13.2 At present, 32 different germline mutations in the CYLD gene have been described,3 20 in families with FC, 8 in families with MFT, and 4 in families with BSS. Taken together, these observations suggest that these inherited syndromes associated with skin appendage tumors not only share a common genetic basis but also may represent phenotypic variation of the same disease.4
Report of a Case
An 8-year-old girl came to our department with her parents. Her mother, grandmother, and 2 . . . [Full Text of this Article]
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