By Gary M. White, MD
Courtesy Michael O. Murphy, MD
Brooke-Spieler Syndrome (BSS) is the association of cylindromas with multiple facial trichoepitheliomas and occasionally other adnexal tumors e.g. spiradenomas or EICs [AD 2017;153;826].
- BSS may be inherited AD.
- Mutations in the cylindromatosis (CYLD) gene on 16q12-q13 have been associated.
- The term CYLD cutaneous syndrome has been suggested.
- Familial cylindromatosis and multiple familial trichoepithelioma represent the two ends within the spectrum of Brooke-Spiegler syndrome but most families and patients fall somewhere in the middle [Hum Mutat. 2009 Jul; 30(7): 1025–1036].
Clinical and Treatment
Please see individual entries for cylindromas and trichoepitheliomas. Genetic counseling should be done.
Genital tumors are occasionally found in female patients with CYLD mutations and include EICs, cylindromas and eccrine spiradenomas [JAMA Derm 2017;153;826].
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