Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation.
Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT), originally described as distinct entities, share overlapping clinical findings. Patients with BSS are predisposed to multiple skin appendage tumors such as cylindroma, trichoepithelioma, and spiradenoma. FC, however, is characterized by cylindromas and MFT by trichoepitheliomas as the only tumor type. These disorders have recently been associated with mutations in the CYLD gene. In this report, we describe three families with BSS, one with FC, and two with MFT phenotypes associated with novel and recurrent mutations in CYLD. We provide evidence that these disorders represent phenotypic variation of a single entity and lack genotype-phenotype correlation.
Bowen
Sarah
S
Department of Dermatology, Columbia University, New York, New York 10032, USA.
Gill
Melissa
M
Lee
David A
DA
Fisher
Galen
G
Geronemus
Roy G
RG
Vazquez
Marialuisa Espinel
ME
Celebi
Julide Tok
JT
D003528:Carcinoma, Adenoid Cystic / Q000235:genetics*; D018280:Carcinoma, Skin Appendage / Q000235:genetics*; D000074749:Deubiquitinating Enzyme CYLD; D005838:Genotype; D006801:Humans; D009154:Mutation; D009378:Neoplasms, Multiple Primary / Q000235:genetics*; D010641:Phenotype; D012878:Skin Neoplasms / Q000235:genetics*; D013577:Syndrome; D025521:Tumor Suppressor Proteins / Q000235:genetics*
D025521:Tumor Suppressor Proteins; C409984:CYLD protein, human; D000074749:Deubiquitinating Enzyme CYLD