Clinical and molecular investigation of Buschke-Fischer-Brauer in consanguineous Tunisian families.

Background: Punctate palmoplantar keratoderma type I (PPPK-BFB), also called Buschke-Fischer-Brauer disease (MIM 148600) is a rare autosomal dominant disorder of keratinization, characterized by multiple hyperkeratotic lesions on the palms and soles. Recently, PPPK-BFB has been shown to be associated with mutations in the AAGAB gene in several families of European, African, Canadian and Asian origins.

Objective: To characterize the clinical and genetic features of PPPK-BFB in a broad group of Tunisian patients.