Content » Vol 65, Issue 6

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

Gamborg Nielsen P, Sjölund E.
DOI: 10.2340/0001555565526530

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 two patients. Two genetic theories were suggested: an autosomal recessive genetic trait or a gonadal mosaicism with an early dominant gene mutation.

Significance

Supplementary content

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