August 2006

Genetic Heterogeneity in Keratolytic Winter Erythema (Oudtshoorn Skin Disease)

Author Affiliations

Copyright 2006 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2006

Arch Dermatol. 2006;142(8):1065-1086. doi:10.1001/archderm.142.8.1073

Keratolytic winter erythema, also known as Oudtshoorn skin disease, is a monogenic autosomal dominant, highly penetrant genodermatosis of seasonal desquamation of the palms and soles. Originally described in a cohort in South Africa,1,2 it has subsequently been identified in a large pedigree of German origin.3 The disease locus has been mapped to chromosome 8p22-p23.3 We report a case that was clinically and histologically indistinct from Oudtshoorn skin disease but was unlinked to this region.