ArticleDermatology and therapy2026
Consensus Recommendations for Management of Darier Disease: A Practical Approach.
Article in Dermatology and therapy, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundDarier disease (DD) is a rare, autosomal dominant genodermatosis caused by pathogenic variants in the ATP2A2 gene, encoding the sarco/endoplasmic reticulum calcium ATPase. DD is characterized by chronic, recurrent cutaneous lesions and variable extracutaneous manifestations, resulting in significant impairment of quality of life. Disease onset typically occurs after puberty, with environmental triggers and variable expressivity.
objectivesThe aim of this study was to provide practical, evidence- and consensus-based recommendations for the management of patients with DD, particularly for healthcare professionals in non-expert centers, and to highlight emerging therapeutic avenues.
methodsRecommendations were formulated on the basis of a systematic review of the literature and expert consensus from the European Reference Network for Rare and Undiagnosed Skin Disorders (ERN-Skin). Evidence from case reports, case series, and mechanistic studies was considered to provide guidance on symptomatic and advanced targeted therapies. RESULTS AND RECOMMENDATIONS: The panel agreed on a total of 68 recommendations. Diagnosis is primarily clinical, supported by family history, histopathology, cytodiagnosis, and, whenever possible, ATP2A2 genetic testing. Genetic counseling should be offered to patients and at-risk relatives. First-line management entails trigger avoidance, skin care using topical antiseptics, emollients, and anti-inflammatory agents, alongside symptomatic control. Topical treatments include corticosteroids, retinoids, and calcineurin inhibitors; systemic therapies (oral retinoids, immunomodulators) are indicated for moderate-to-severe or refractory disease. Physical treatments (ablative lasers, cryotherapy, photodynamic therapy) are reserved for localized treatment-resistant lesions. Targeted therapies (JAK/IL-17/IL-23/IL-4-13/MEK inhibitors), and topical gene therapy, are under evaluation or development. Multidisciplinary management is recommended (neuropsychiatric, ocular, dental, and obstetric). Long-term outcomes remain limited, and durable remission is currently unattainable; treatments must be individualized.
conclusionsDD is a chronic, genetic disorder that significantly impairs quality of life. These practical recommendations provide a framework for diagnosis, management, and follow-up, and highlight the need for clinical trials, registries, and biomarker-driven research to advance therapeutic strategies and explore novel, mechanism-based treatments.
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