Palmoplantar keratoderma with deafness

Palmoplantar keratoderma with deafness, also called palmoplantar keratoderma-deafness syndrome, is a rare genetic disorder defined by two features together: early-onset thickening of the skin of the palms and soles, which may be focal or diffuse, and sensorineural hearing loss. The skin changes typically involve the thenar and hypothenar areas of the hands and the arch of the foot, and they usually begin between early and late infancy, accompanied by deafness whose age of onset varies. Transmission is autosomal dominant with incomplete penetrance. The article attributes the condition to autosomal dominant missense mutations of the GJB2 gene, which it places on the long arm of chromosome 13. Very few families are known: according to the Online Mendelian Inheritance in Man database four families worldwide have been described, though other sources count ten, and an exact case count is hard to give because most case reports do not specify numbers. Treatment combines the usual approaches to each problem. For the deafness these are surgery, hearing aids and cochlear implants, and for the skin they are ointments, emollients, keratolytic agents and topical retinoids.