Congenital localized absence of skin, blistering and nail abnormalities, a new syndrome.
A syndrome consisting of congenital absence of skin, affecting the lower limbs, blistering of skin and mucous membranes and congenital absence and deformity of nails is described in a kindred. The mode of inheritance is that of a fully penetrant, autosomal dominant gene. Expressivity of the syndrome is variable.
D001768:Blister / Q000235:genetics*; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007868:Leg Dermatoses / Q000235:genetics*; D008297:Male; D009059:Mouth Diseases / Q000235:genetics; D009061:Mouth Mucosa / Q000002:abnormalities; D009264:Nails, Malformed / Q000235:genetics*; D010375:Pedigree; D010608:Pharyngeal Diseases / Q000235:genetics; D012868:Skin Abnormalities; D013577:Syndrome