‘When diagnostics become prevention’: A patient's perspective on Darier's disease
genetic diagnostics, genodermatoses, Morbus Darier, preimplantation genetic testing, quality of life, the desire to have children/family planning My skin problems started when I was 14 years old, in the middle of puberty.What began with one small plaque gradually spread across my entire body.A dermatologist clinically diagnosed me with Darier's disease (now classified as ATP2A2-nEDD 1 ), a condition I inherited from my mother.Initially, I focused entirely on minimizing the
Authors
- Antoni Gostyński (ORCID: https://orcid.org/0000-0002-1091-2914)
- Fauve C A P van Veen (ORCID: https://orcid.org/0000-0002-7786-4144)
- Silke M. J. C. J. Koster
Institutions
- Maastricht University Medical Centre (NL)
- Maastricht University (NL)
Publication Details
- Journal
- Journal of the European Academy of Dermatology and Venereology
- Published
- 2026-09-01
- DOI
- https://doi.org/10.1111/jdv.70707
- Primary Topic
- Genetic and rare skin diseases.
- Type
- article
- Field-Weighted Citation Impact
- 0.00