Autosomal recessive pachyonychia congenita.
We report the second and third cases of pachyonychia congenita inherited as an autosomal recessive disorder. Our cases were unusual, with the fingernails showing a striking leukonychia and appearing clinically as Terry's nails. These patients were originally diagnosed as having epidermolysis bullosa simplex because of a history of a life-long blistering disorder. The clinical features and inheritance of pachyonychia congenita, as well as the reasons for the long delay in diagnosis of our cases, are discussed.
D000328:Adult; D003241:Consanguinity; D003951:Diagnostic Errors; D004820:Epidermolysis Bullosa / Q000473:pathology; D005808:Genes, Recessive; D006801:Humans; D007642:Keratosis / Q000235:genetics; D008297:Male; D009260:Nail Diseases / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012872:Skin Diseases, Vesiculobullous / Q000235:genetics; D014060:Tongue Diseases / Q000235:genetics