Literature DB >> 2420118

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

P Gamborg Nielsen, E Sjölund.   

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.

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Mesh:

Year:  1985        PMID: 2420118

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN: 0001-5555            Impact factor:   4.437


  2 in total

1.  On the genetics of hypodontia and microdontia: synergism or allelism of major genes in a family with six affected members.

Authors:  S P Lyngstadaas; H Nordbo; T Gedde-Dahl; P S Thrane
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

Review 2.  Alopecia in Autoimmune Blistering Diseases: A Systematic Review of Pathogenesis and Clinical Features of Disease.

Authors:  Danica Xie; Asli Bilgic-Temel; Nada Abu Alrub; Dédée F Murrell
Journal:  Skin Appendage Disord       Date:  2019-07-10
  2 in total

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