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Darier disease.

Atsushi Takagi1, Maya Kamijo1, Shigaku Ikeda1

  • 1Department of Dermatology and Allergology, Juntendo University Graduate School of Medicine, Tokyo, Japan.

The Journal of Dermatology
|March 7, 2016
PubMed
Summary

Darier disease is an inherited skin disorder caused by ATP2A2 gene mutations affecting calcium pumps. Current treatments are symptomatic, with limited options due to side effects.

Area of Science:

  • Dermatology
  • Genetics
  • Biochemistry

Background:

  • Darier disease (DD) is an autosomal dominant inherited keratinizing disorder.
  • Mutations in the ATP2A2 gene, encoding the SERCA2 calcium pump, cause DD.
  • DD manifests in childhood with papules in seborrheic areas, potentially progressing to scales and scabs, and may involve psychiatric symptoms.

Purpose of the Study:

  • To summarize the current understanding of Darier disease, including its genetic basis, clinical presentation, and therapeutic challenges.
  • To highlight the limitations of existing treatments for Darier disease.

Main Methods:

  • Review of existing literature on Darier disease.
  • Analysis of genetic mutations and their impact on SERCA2 function.
  • Examination of clinical manifestations and histological findings.
Keywords:
ATP2A2Darier diseasepathogenesisreviewsarco/endoplasmic reticulum ATPase type 2

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  • Evaluation of current and potential therapeutic strategies.

    • Main Results:

    • Darier disease is linked to ATP2A2 mutations affecting calcium regulation in the endoplasmic reticulum.
    • Clinical features include papules, scales, and scabs, primarily on the face, chest, and back.
    • Histological hallmarks are corps ronds and grains with suprabasal cleavage.
    • Non-dermal symptoms, such as psychiatric issues, can accompany DD.
    • No definitive curative treatments exist; symptomatic management is standard.
    • Oral retinoids show efficacy but have significant adverse effects limiting their use.

    Conclusions:

    • Darier disease is a complex genetic disorder with significant clinical impact.
    • Current treatment options for Darier disease are limited and primarily symptomatic.
    • Further research is needed to develop safer and more effective therapies for Darier disease.