1. ^*Department of Dermatology, Columbia University, New York, New York, USA
2. ^†Department of Pathology, Columbia University, New York, New York, USA
3. ^‡The Laser and Skin Surgery Center of New York, New York, New York, USA
4. ^§Hospital Comarcal de la Linea, Cadiz, Spain

Correspondence: Julide Tok Celebi, MD, Department of Dermatology, Columbia University, 630 West 168th Street, VC-15-202 New York, NY 10032, USA. Email: jt165@columbia.edu

Received 26 October 2004; Revised 7 July 2004; Accepted 3 January 2004.

Abstract

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.