Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders: a new syndrome.
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.
Gamborg Nielsen
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P
Sjölund
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D000293:Adolescent; D000505:Alopecia / Q000235:genetics*; D000848:Anodontia / Q000235:genetics*; D002648:Child; D004820:Epidermolysis Bullosa / Q000235:genetics*; D005260:Female; D006801:Humans; D009260:Nail Diseases / Q000235:genetics*; D010375:Pedigree; D013548:Sweden; D013577:Syndrome