Skip to main content

Medical Subject Headings

Search from vocabulary

Content language

Concept information

Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Darier Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Darier Disease
Skin and Connective Tissue Diseases > Skin Diseases > Keratosis > Darier Disease

Preferred term

Darier Disease  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Darier's Disease
  • Dariers Disease
  • Darier White Disease
  • Darier-White Disease
  • Darier-White Diseases
  • Disease, Darier's
  • Disease, Darier-White
  • Diseases, Darier-White
  • Keratosis Follicularis

Scope note

  • An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES.

History note

  • 2009 (1966)

In other languages

  • follikulaarinen keratoosi

    Finnish

  • Darier
  • Darier-White
  • Darier-Whiten tauti
  • Darierin tauti
  • dyskeratosis follicularis
  • follikulaarinen dyskeratoosi
  • follikulaarinen sarveistuma
  • keratosis follicularis
  • morbus Darier
  • Dariers sjukdom

    Swedish

URI

http://www.yso.fi/onto/mesh/D007644

Download this concept:

RDF/XML TURTLE JSON-LD Created 1/1/99, last modified 6/25/24