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Updated: Aug 21, 2026

Portable Thermographic Screening for Detection of Acute Wallenberg's Syndrome
Published on: September 19, 2019
Case of the Brooke-Spiegler syndrome
Hoang Ly1, Martin M Black, Alistair Robson
1St John's Institute of Dermatology, St Thomas' Hospital, London, UK. hoanglydr@yahoo.com
Abstract:
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.
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