CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes

A. L. Young, R. Kellermayer, R. Szigeti, A. Tészás, S. Azmi, Julie Tok Celebi

Research output: Contribution to journalArticlepeer-review

70 Scopus citations

Abstract

Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT), originally described as distinct inherited disorders, are characterized by a variety of skin appendage neoplasms. Mutations in the CYLD gene are found in individuals with these syndromes. We describe a single family with affected members exhibiting either the FC or the MFT phenotypes associated with a mutation in the CYLD gene. These findings support the notion that BSS, FC, and MFT represent phenotypic variation of a single defect. Of interest, one of the affected individuals described in this report exhibits a severe phenotype illustrating the morbidity of the disorder.

Original languageEnglish (US)
Pages (from-to)246-249
Number of pages4
JournalClinical Genetics
Volume70
Issue number3
DOIs
StatePublished - Sep 2006

Keywords

  • Genetic
  • Genodermatosis
  • Mutation
  • Neoplasm
  • Skin

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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