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- Title
Familial comedonal Darier's disease: a new ATP2A2 mutation with intra‐family clinical heterogeneity.
- Authors
Civico‐Ruiz, Maria B.; Zulueta‐Dorado, Teresa; López‐Delgado, Juan J.; Fernández‐Rosado, Francisco; Coronel‐Pérez, Isabel M.; Martínez‐Barranca, María L.
- Abstract
This article discusses familial comedonal Darier's disease (CDD), a rare variant of Darier's disease (DD), which is an autosomal dominant genodermatosis caused by mutations in the ATP2A2 gene. CDD is characterized by prominent follicular involvement, resulting in the formation of large comedo-like lesions primarily on the face and scalp. The article presents a case study of a 45-year-old woman with familial CDD, along with her family members who had different subtypes of DD. The study identifies a new mutation in the ATP2A2 gene and emphasizes the importance of thorough exploration of relatives in diagnosing CDD due to its clinical variability.
- Subjects
KERATOSIS follicularis; HETEROGENEITY; GENETIC mutation; ALOPECIA areata
- Publication
International Journal of Dermatology, 2023, Vol 62, Issue 12, pe620
- ISSN
0011-9059
- Publication type
Article
- DOI
10.1111/ijd.16712