TY - JOUR
T1 - Darier disease—A review highlighting new insights from the Darier Disease International Task Force
AU - Labbouz, Sofia
AU - Hovnanian, Alain
AU - Xiong, Grace
AU - Murrell, Dedee Frances
AU - Mueller, Simon M.
AU - Ezzedine, Khaled
AU - Mohandesi, Nessa Aghazadeh
AU - Aldhaheri, Ahmed Salem
AU - Asayag, Nissim
AU - Baselga, Eulalia
AU - Nadler, Chen
AU - Choate, Keith
AU - Chu, Chia Yu
AU - Edminister, John Robert
AU - Guenova, Emmanuella
AU - Gönülal, Melis
AU - Gostynski, Antoni
AU - Gupta, Ankan
AU - Gupta, Lalit Kumar
AU - Mazereeuw-Hautier, Juliette
AU - Hoetzenecker, Wolfram
AU - Itin, Peter
AU - Jankowski, Marek
AU - Kubo, Akiharu
AU - Lee, Haur Yueh
AU - Lehman, Julia Scott
AU - Lepekhova, Anfisa
AU - Medvecz, Márta
AU - Mellerio, Jemima E.
AU - Moosbrugger-Martinz, Verena
AU - Paller, Amy S.
AU - Plázár, Dóra
AU - Queiróz, Amadeu José Rodrigues
AU - Riera-Monroig, Josep
AU - Rosa, Ralph
AU - Schmuth, Matthias
AU - Freire, Maella Severino
AU - Shabat, Itzhak
AU - Shapiro, Jonathan
AU - Simpson, Cory L.
AU - Soto-García, Diego
AU - Stratigos, Alexander J.
AU - Tadini, Gianluca Abel
AU - Takeichi, Takuya
AU - Verma, Kaushal K.
AU - Wikström, Jakob D.
AU - Zink, Alexander
AU - Ziv, Michael
AU - Navarini, Alexander
AU - Dodiuk-Gad, Roni Pircha
N1 - Publisher Copyright:
© 2026 The Author(s). Journal of the European Academy of Dermatology and Venereology published by John Wiley & Sons Ltd on behalf of European Academy of Dermatology and Venereology.
PY - 2026
Y1 - 2026
N2 - 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.
AB - 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.
KW - Darier disease
KW - acantholysis
KW - acantholytic disease
KW - epidermal differentiation disorder
KW - genodermatosis
UR - https://www.scopus.com/pages/publications/105040707855
U2 - 10.1111/jdv.70483
DO - 10.1111/jdv.70483
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C2 - 42223188
AN - SCOPUS:105040707855
SN - 0926-9959
JO - Journal of the European Academy of Dermatology and Venereology
JF - Journal of the European Academy of Dermatology and Venereology
ER -