Skip to main navigation Skip to search Skip to main content

Darier disease-A review highlighting new insights from the Darier Disease International Task Force

  • Sofia Labbouz
  • , Alain Hovnanian*
  • , Grace Xiong
  • , Dedee Frances Murrell
  • , Simon M Mueller
  • , Khaled Ezzedine
  • , Nessa Aghazadeh Mohandesi
  • , Ahmed Salem Aldhaheri
  • , Nissim Asayag
  • , Eulalia Baselga
  • , Chen Nadler
  • , Keith Choate
  • , Chia-Yu Chu
  • , John Robert Edminister
  • , Emmanuella Guenova
  • , Melis Gönülal
  • , Antoni Gostynski
  • , Ankan Gupta
  • , Lalit Kumar Gupta
  • , Juliette Mazereeuw-Hautier
  • Wolfram Hoetzenecker, Peter Itin, Marek Jankowski, Akiharu Kubo, Haur Yueh Lee, Julia Scott Lehman, Anfisa Lepekhova, Márta Medvecz, Jemima E Mellerio, Verena Moosbrugger-Martinz, Amy S Paller, Dóra Plázár, Amadeu José Rodrigues Queiróz, Josep Riera-Monroig, Ralph Rosa, Matthias Schmuth, Maella Severino Freire, Itzhak Shabat, Jonathan Shapiro, Cory L Simpson, Diego Soto-García, Alexander J Stratigos, Gianluca Abel Tadini, Takuya Takeichi, Kaushal K Verma, Jakob D Wikström, Alexander Zink, Michael Ziv, Alexander Navarini, Roni Pircha Dodiuk-Gad*
*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

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 languageEnglish
Pages (from-to)1626-1647
Number of pages22
JournalJournal of the European Academy of Dermatology and Venereology
Volume40
Issue number10
Early online date01 Jun 2026
DOIs
Publication statusPublished - Oct 2026

Fields of science

  • 301902 Immunology
  • 302 Clinical Medicine
  • 302011 Dermatology
  • 302087 Venereology

Cite this