Consensus Recommendations for Management of Darier Disease: A Practical Approach

Area of Science:

• Dermatology
• Genetics
• Rare Diseases

Background:

• Darier disease (DD) is a rare, autosomal dominant genodermatosis stemming from ATP2A2 gene variants.
• Characterized by chronic skin lesions and extracutaneous issues, DD significantly impairs patients' quality of life.
• Onset typically occurs post-puberty, influenced by environmental factors and exhibiting variable expressivity.

Purpose of the Study:

• To establish evidence- and consensus-based recommendations for managing Darier disease patients.
• To guide healthcare professionals, especially in non-expert settings, on DD patient care.
• To identify and discuss emerging therapeutic strategies for Darier disease.

Main Methods:

• Systematic literature review and expert consensus from the European Reference Network for Rare and Undiagnosed Skin Disorders (ERN-Skin).
• Inclusion of evidence from case reports, case series, and mechanistic studies.
• Formulation of guidance for symptomatic and advanced targeted therapies.

Main Results:

• A total of 68 recommendations were agreed upon for DD management.
• Diagnosis relies on clinical presentation, family history, histopathology, and ATP2A2 genetic testing.
• Management includes trigger avoidance, topical treatments (corticosteroids, retinoids), systemic therapies for severe cases, and physical modalities for resistant lesions.

Conclusions:

• DD is a chronic genetic disorder significantly affecting quality of life, necessitating multidisciplinary and individualized management.
• Recommendations provide a framework for diagnosis, management, and follow-up.
• Further research, clinical trials, and registries are crucial for advancing therapeutic strategies and developing novel treatments.