A family of Bart-Pumphrey syndrome

作者：Gonul Muzeyyen^*; Gul Ulker; Hizli Pelin; Hizli Omer

来源：Indian Journal of Dermatology, Venereology and Leprology, 2012, 78(2): 178-181.

DOI：10.4103/0378-6323.93636

• Bart-Pumphrey syndrome
• hearing loss
• knuckle pads
• leukonychia

Bart-Pumphrey syndrome (BPS) is an autosomal-dominant disorder characterized by hearing loss, leukonychia, knuckle pads and palmoplantar keratoderma. Two mutations in the extracellular domain of GBJ2 are resposible for this syndrome. To date, less than 10 case reports or clinical series about BPS have been published in the literature. Hearing loss and knuckle pads are the more commonly seen findings of this syndrome. Three generations and six family members with variable findings of knuckle pads, leukonychia, hearing loss and palmoplantar hyperkeratosis were presented in this report. We want to emphasize that dermatogists must be alert during the evaluation of these findings because some findings of this disorder may be vague or absent.

• 出版日期2012-4