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

Sach ThakkerMariah Owusu-AgyeiRachel MarchalikJun Kevin Kang
Published in: Pediatric dermatology (2024)
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.
Keyphrases
  • healthcare
  • case report
  • early onset
  • intellectual disability
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