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[Darier disease].

A Klausegger1, M Laimer, J W Bauer

  • 1Universitätsklinik für Dermatologie der Paracelsus Medizinischen Privatuniversität Salzburg, Müllner Hauptstr. 48, 5020, Salzburg, Österreich. a.klausegger@salk.at

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
|January 23, 2013
PubMed
Summary
This summary is machine-generated.

Darier disease, a rare genetic skin disorder, stems from mutations in the SERCA2 gene impacting calcium signaling. While retinoids offer symptom relief, their side effects limit long-term use.

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Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Darier disease (Darier-White disease, dyskeratosis follicularis) is a rare autosomal dominant genodermatosis.
  • Mutations in the ATP2A2 gene, encoding sarco/endoplasmic reticulum calcium ATPase 2 (SERCA2), are responsible.
  • This gene plays a crucial role in intracellular calcium signaling.

Purpose of the Study:

  • To summarize the genetic basis and clinical aspects of Darier disease.
  • To review current treatment strategies and their limitations.

Main Methods:

  • Genetic analysis to identify mutations.
  • Review of clinical manifestations and treatment outcomes.

Main Results:

  • Mutations are located on chromosome 12q23-24.1.
  • Neuropsychiatric disorders are associated but not directly caused by ATP2A2 mutations.
  • Oral retinoids (acitretin, isotretinoin) are effective in 90% of severe cases but have limiting side effects.

Conclusions:

  • Darier disease is linked to SERCA2 gene mutations affecting calcium transport.
  • Current treatments focus on symptom management, with retinoids being effective but often causing side effects.
  • Further research may explore alternative therapeutic approaches.