title: Variant of keratoderma hereditaria mutilans (Vohwinkel's syndrome). Treatment with orally administered isotretinoin.
abstract: Keratoderma hereditaria mutilans (KHM), or Vohwinkel's syndrome, is a rare genodermatosis consisting of hyperkeratosis of the palms and soles with a characteristic "honeycomb" appearance, keratotic structures taking the shape of a starfish and/or knuckle pads on the dorsal surfaces of the hands, and constricting bands (pseudoainhum) encircling digits of the hands and feet. We describe three cases of a variant of KHM with an associated ichthyosiform dermatosis in a pedigree consisting of 19 affected individuals through six generations. An autosomal dominant inheritance pattern for KHM was confirmed. One of the patients was successfully treated with isotretinoin, 0.6 mg/kg/day orally. We offer five hypothetical genetic models to account for the simultaneous expression of palmar-plantar keratoderma and ichthyosiform dermatosis.
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D006801:Humans; D007057:Ichthyosis / Q000235:genetics; D007536:Isomerism; D015474:Isotretinoin; D007645:Keratoderma, Palmoplantar / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008957:Models, Genetic; D010375:Pedigree; D014212:Tretinoin / Q000008:administration & dosage* / Q000627:therapeutic use
chemical_list: D014212:Tretinoin; D015474:Isotretinoin