Punctate palmoplantar keratoderma

Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. PPKPs are classified into 3 types; PPKP1 (Brauer-Buschke-Fischer disease), PPKP2 (porokeratosis punctata palmaris et plantaris), and PPKP3 (Acrokeratoelastoidosis lichenoides). PPKP has previously been mapped to chromosomal region 15q22-15q24 and region 8q24.13-8q24.21, but the molecular basis has not been identified yet. Recently, it has been reported that nonsense mutations in AAGAB gene cause PPKP1.