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- Title
Generalized Hailey-Hailey disease associated with c.2395C>T mutation in the ATP2C1 gene, and fatal outcome.
- Authors
Brown, Isabelle D.; Pariser, Robert J.
- Abstract
Hailey-Hailey disease (HHD) is a rare, autosomal dominant genodermatosis caused by a mutation of the ATP2C7 gene and presenting as an erosive dermatosis, particularly in the intertriginous areas. Generalized HHD is a rare variant. We present a case of widespread, recalcitrant HHD in a middle-aged woman with a fatal outcome. No other underlying dermatosis was identified, with the possible exception of drug sensitivity to carbamazepine. Diagnosis of HHD was confirmed by histology and genetic studies which showed a c.2395C>T mutation in the ATP2C7 gene. Concurrent pemphigus was excluded. Cases of generalized HHD are extremely rare and present a challenge in diagnosis and management. Increased awareness of this severe clinical variant is needed to improve quality of care for patients with this form of HHD.
- Subjects
RARE diseases; CARBAMAZEPINE; ACANTHOLYSIS; EPIDERMAL diseases; VACCINATION; PFIZER Inc.
- Publication
Dermatology Online Journal, 2024, Vol 30, Issue 2, p1
- ISSN
1087-2108
- Publication type
Article
- DOI
10.5070/D330263583