F11 WOOLLY HAIR AND PALMOPLANTAR KERATODERMA - A CASE REPORT OF A GENODERMATOSIS AFFECTING DESMOSOMAL ADHESION
Görög JP1, Boudny C2
1Department of Dermatology, Kantonsspital Aarau, Switzerland
2Department of Dermatology, University Hospital, Inselspital Bern, Switzerland

Recently the genetic and molecular basis of two clinically similar ectodermal dysplasias presenting with woolly hair, palmoplantar keratoderma and dilated cardiomyopathy has been clarified. We present the case of a 2-year-old boy showing the combination of woolly hair, striate palmoplantar keratoderma and oozing erythematous lesions with perioral distribution. We highlight the importance of dermatologists to arrange for regular cardiac examination. Furthermore we discuss briefly the known mutations in the genes encoding for proteins in the desmosome-complex thus providing an overview of a spectrum of pathogenetically related but clinically and prognostically different genodermatoses.