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- Title
Spontaneous clinical remission of Nagashima‐type palmoplantar keratoderma in a patient of Korean descent with a heterozygous SERPINB7 mutation.
- Authors
Thakker, Sach; Owusu‐Agyei, Mariah; Marchalik, Rachel; Kang, Jun Kevin
- Abstract
Nagashima‐type palmoplantar keratoderma (NPPK) is an autosomal recessive form of diffuse palmoplantar keratoderma (PPK) characterized by thickening and redness of palms and/or soles. In this report, we describe a female patient of Korean descent who had clinical remission of her adult‐onset NPPK. To our knowledge, she is the first reported heterozygous SERBINB7 mutation carrier to present with classic NPPK who achieved spontaneous clinical remission.
- Subjects
DISEASE remission; GENETIC mutation; PALMOPLANTAR keratoderma; GAIN-of-function mutations; WOMEN patients; NUTRITION surveys
- Publication
Pediatric Dermatology, 2024, Vol 41, Issue 2, p369
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/pde.15511