A Novel 5-bp Deletion Mutation in AAGAB Gene in a Chinese Family with Punctate Palmoplantar Keratoderma

© 2014 The Authors. doi: 10.2340/00015555-1724 Journal Compilation © 2014 Acta Dermato-Venereologica. ISSN 0001-5555 Punctate palmoplantar keratoderma (PPPK, OMIM 148600), also known as Buschke-Fischer-Brauer’s disease, is a rare autosomal dominant disorder. It is characterised by multiple tiny punctate keratoses on the surface of the palms and soles (1). The lesions usually start to develop in late childhood to adolescence, but even as late as middle age (2). PPPK can be associated with malignancies, such as lung cancer, Hodgkin’s disease, breast cancer and prostatic carcinoma (3). In 2003, Martinez-Mir et al. (4) mapped the PPPK gene on chromosome 15q22–q24. Zhang et al. (5) performed the genome-wide linkage study in 2 Chinese families and identified 8q24.13–8q24.21 locus for PPPK in 2004. Gao et al. (6) and Mamai et al. (7) refined localisation of a PPPK gene to a region at 15q22.2–15q22.31 and a locus to only 0.967 Mb at chromosome 15, respectively. Recently, pathogenic mutations of AAGAB and COL14A1 genes in PPPK pedigrees have been reported (8–11).