47 patients in 14 families with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer.

We summarize the clinical data of 47 patients with the rare genodermatosis keratosis punctata palmoplantaris Buschke-Fischer-Brauer. The pedigrees of 14 German families were studied. In three families there was only one member affected, two or more affected members were found in the other families. These family pedigrees were consistent with autosomal dominant inheritance. Variable expression of the disease was noted in members within one family. Over pressure points punctate keratoses coalesced into hyperkeratotic plaques. There was palmoplantar hyperhidrosis in 3 families associated with keratosis. Continuous systemic retinoid treatment can clear symptoms. Future genetic classification on a molecular basis may reveal the existence of more than one entity of this clinically heterogeneous genodermatosis.