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Case of the Brooke–Spiegler syndrome
Author(s) -
Ly Hoang,
Black Martin M,
Robson Alistair
Publication year - 2004
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/j.1440-0960.2004.00101.x
Subject(s) - cylindroma , trichoepithelioma , medicine , scalp , trunk , nodule (geology) , pathology , dermatology , biology , basal cell , ecology , paleontology , basal cell carcinoma
SUMMARY A 36‐year‐old woman presented with lesions on her scalp, face and trunk. Histopathological examination of these lesions demonstrated facial trichoepithelioma, and scalp cylindroma. A solitary nodule on the trunk had features of cylindroma, spiradenoma and trichoepithelioma, a previously unreported occurrence. Based on the clinical picture, the diagnosis of Brooke–Spiegler syndrome was established. Genetic studies confirmed the diagnosis, demonstrating a splice site mutation, designated 1518+2T>C, on the CYLD1 gene of chromosome 16q12–q13.