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1. Spontaneous clinical remission of Nagashima-type palmoplantar keratoderma in a patient of Korean descent with a heterozygous SERPINB7 mutation.

Author

Thakker S, Owusu-Agyei M, Marchalik R, and Kang JK

Subjects
Adult, Humans, Female, Mutation, Asian People genetics, Republic of Korea, Keratoderma, Palmoplantar diagnosis, Keratoderma, Palmoplantar genetics, Serpins genetics
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., (© 2024 Wiley Periodicals LLC.)

Published
2024
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