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

Pediatr Dermatol. 2024 Mar-Apr;41(2):369-371. doi: 10.1111/pde.15511. Epub 2024 Jan 2.

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.

Keywords: Nagashima-type PPK; SERPINB7; palmoplantar keratoderma.

Publication types

  • Letter

MeSH terms

  • Adult
  • Asian People / genetics
  • Female
  • Humans
  • Keratoderma, Palmoplantar* / diagnosis
  • Keratoderma, Palmoplantar* / genetics
  • Mutation
  • Republic of Korea
  • Serpins* / genetics

Substances

  • Serpins
  • SERPINB7 protein, human