Cutaneous findings in Bardet-Biedl syndrome

Bardet-Biedl syndrome (BBS) is a rare, pleiotropic syndrome and member of a diverse group of disorders known as ciliopathies. Improved understanding of dermatoses in BBS will further understanding of the syndrome and will help define the role of dermatologists in providing care for patients with BBS. The purpose of this study was to describe the cutaneous phenotype of BBS in patients attending a large, multispecialty BBS clinic.

All patients attending the multispecialty BBS Clinic at the Marshfield Medical Center over a 12-month period were invited to participate. Complete cutaneous examinations were performed by a board-certified dermatologist, and comprehensive physical examinations were performed by clinic physicians. Molecular genetic results were obtained when available. Comprehensive laboratory studies were performed in each patient including fasting blood sugar and thyroid and renal function.

Thirty-one individuals ranging in age between 2 and 69 years (median age, 12 years) participated in the study. Cutaneous findings were present in all subjects. Keratosis pilaris was present in 80.6% of subjects, and seborrheic dermatitis was present in 19.3%. Obesity, a cardinal feature of BBS, was present in the majority of subjects (90.3%) and was accompanied by known obesity-related dermatologic disorders.

Cutaneous disorders are common in BBS and suggest disturbance of keratinization and keratinocyte function as well as systemic consequences of BBS on skin health. Increased prevalence of skin barrier dysfunction in this ciliopathy demonstrates the importance of dermatologist contribution to health care in BBS.