Case of the Brooke-Spiegler syndrome

H Ly; M M Black; A Robson

doi:10.1111/j.1440-0960.2004.00101.x

Case of the Brooke-Spiegler syndrome

H Ly, M M Black, A Robson

King's College London

Research output: Contribution to journal › Article › peer-review

18 Citations (Scopus)

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

Original language	English
Pages (from-to)	220 - 222
Number of pages	3
Journal	Australasian Journal of Dermatology
Volume	45
Issue number	4
DOIs	https://doi.org/10.1111/j.1440-0960.2004.00101.x
Publication status	Published - Nov 2004

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title = "Case of the Brooke-Spiegler syndrome",

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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AU - Black, M M

AU - Robson, A

PY - 2004/11

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AB - 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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DO - 10.1111/j.1440-0960.2004.00101.x

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JO - Australasian Journal of Dermatology

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ER -

Case of the Brooke-Spiegler syndrome

Abstract

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