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.