Literature DB >> 29761773

[Dyskeratosis follicularis].

Inger Lily Dorf1, Mette Sommerlund, Ann-Bine Skytte, Uffe Koppelhus.   

Abstract

Dyskeratosis follicularis (or Darier's disease) is a genetic skin disease with an autosomal dominant inheritance and a prevalence of 1:100,000-1:35,000. Mutations in the gene ATP2A2 encoding the Ca2+-ATPase SERCA2 in the endoplasmatic reticulum lead to acantholysis and dyskeratosis in the epidermis, nails and mucosal membranes with resultant brown-yellow coloured, often infested skin papules and nail changes. The newly established Danish database for genodermatoses is embarking on an extensive registration of all Danish patients with Darier's disease. Hopefully, the establishment of this database will lead to better research and the formation of a patient association.

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Year:  2018        PMID: 29761773

Source DB:  PubMed          Journal:  Ugeskr Laeger        ISSN: 0041-5782


  2 in total

1.  Validity of first-time diagnoses of congenital epidermolysis bullosa in the Danish National Patient Registry and the Danish Pathology Registry.

Authors:  Mattias Hedegaard Kristensen; Sigrún Alba Jóhannesdóttir Schmidt; Line Kibsgaard; Mette Mogensen; Mette Sommerlund; Uffe Koppelhus
Journal:  Clin Epidemiol       Date:  2019-01-17       Impact factor: 4.790

2.  Validity of First-Time Diagnoses of Darier's Disease in the Danish National Patient Registry.

Authors:  Inger L H Dorf; Sigrún A J Schmidt; Mette Sommerlund; Uffe Koppelhus
Journal:  Clin Epidemiol       Date:  2021-11-12       Impact factor: 4.790

  2 in total

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