http://purl.uniprot.org/diseases/592 | http://www.w3.org/2000/01/rdf-schema#comment | "A keratinization disorder manifesting with mild erythroderma and generalized exfoliation of the skin within a few weeks after birth. Affected boys later develop large, polygonal, dark brown scales, especially on the neck, extremities, trunk, and buttocks."xsd:string |