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


Julide Tok Celebi, MD, Department of Dermatology, Columbia University, 630 West 168th Street, VC-15-202, New York, NY 10032, USA.
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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.