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Mosaic variant in ATP2C1 presenting as relapsing linear acantholytic dermatosis
J A Katzman1, R Chavan2, A C Holliday3
1Department of Dermatology, West Virginia University, Morgantown, WV, U.S.A.
The British Journal of Dermatology
|October 13, 2019
Summary
Relapsing linear acantholytic dermatosis (RLAD) is a rare skin condition. This study identifies a genetic cause for RLAD, confirming it as a mosaic form of Hailey-Hailey disease due to ATP2C1 variants.
Area of Science:
- Dermatology
- Genetics
- Pathology
Background:
- Relapsing linear acantholytic dermatosis (RLAD) presents with recurring skin lesions in a Blaschkoid pattern.
- RLAD is hypothesized to be a mosaic form of Hailey-Hailey disease, particularly type 1, but lacks genetic proof.
- Previous research linked generalized RLAD to type 2 mosaic Hailey-Hailey disease.

