Nagashima-type palmoplantar keratosis: A common Asian type caused by SERPINB7 protease inhibitor deficiency

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Abstract

Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive diffuse non-epidermolytic palmoplantar keratosis caused by mutations in SERPINB7, a member of the serine protease inhibitor superfamily. Genetic studies suggest that NPPK is the most common palmoplantar keratosis in Japan, and probably Asia, but one that is extremely rare in Western countries. In this issue, Yin et al. report a founder effect of a SERPINB7 mutation in Chinese populations.

Original languageEnglish
Pages (from-to)2076-2079
Number of pages4
JournalJournal of Investigative Dermatology
Volume134
Issue number8
DOIs
Publication statusPublished - 2014

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Palmoplantar Keratoderma
Serine Proteinase Inhibitors
Protease Inhibitors
Founder Effect
Mutation
Japan
Population

ASJC Scopus subject areas

  • Dermatology
  • Biochemistry
  • Cell Biology
  • Molecular Biology

Cite this

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title = "Nagashima-type palmoplantar keratosis: A common Asian type caused by SERPINB7 protease inhibitor deficiency",
abstract = "Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive diffuse non-epidermolytic palmoplantar keratosis caused by mutations in SERPINB7, a member of the serine protease inhibitor superfamily. Genetic studies suggest that NPPK is the most common palmoplantar keratosis in Japan, and probably Asia, but one that is extremely rare in Western countries. In this issue, Yin et al. report a founder effect of a SERPINB7 mutation in Chinese populations.",
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AB - Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive diffuse non-epidermolytic palmoplantar keratosis caused by mutations in SERPINB7, a member of the serine protease inhibitor superfamily. Genetic studies suggest that NPPK is the most common palmoplantar keratosis in Japan, and probably Asia, but one that is extremely rare in Western countries. In this issue, Yin et al. report a founder effect of a SERPINB7 mutation in Chinese populations.

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