Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders: A new syndrome

Abstract

Two cases of epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders were described. It was proved that the reported cases represented a new syndrome, which had previously not been published. The syndrome was named 'Syndroma Kallin' after the surname of the 2 patients. Two genetic theories were suggested: an autosomal recessive genetic trait or a gonadal mosaicism with an early dominant gene mutation.