Abstract
Darier disease (DD) is a rare autosomal dominant genodermatosis. This comprehensive review, developed by the Darier Disease International Task Force (DDITF), consolidates current knowledge on the genetic basis, molecular pathophysiology, clinical presentation, diagnosis and management of DD, offering a global perspective that unites shared expertise. The disease arises from pathogenic variants in the ATP2A2 gene, which encodes sarco/endoplasmic reticulum Ca2+-ATPase isoform 2 (SERCA2), leading to disrupted calcium homeostasis and impaired desmosomal integrity. Clinically, DD is classified based on lesion type (classic vs. non-classic) and is often accompanied by significant extracutaneous manifestations. Management remains challenging and requires a multifaceted approach, including topical therapies, systemic retinoids and lifestyle modifications. Emerging treatments that target the underlying molecular mechanisms offer promise for improved outcomes. This review aims to provide an updated reference and practical guidance for clinicians involved in the care and study of DD.
| Original language | English |
|---|---|
| Pages (from-to) | 1626-1647 |
| Number of pages | 22 |
| Journal | Journal of the European Academy of Dermatology and Venereology |
| Volume | 40 |
| Issue number | 10 |
| Early online date | 01 Jun 2026 |
| DOIs | |
| Publication status | Published - Oct 2026 |
Fields of science
- 301902 Immunology
- 302 Clinical Medicine
- 302011 Dermatology
- 302087 Venereology
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