Generalized bullae in a young girl with KRT6A-related pachyonychia congenita

Pediatr Dermatol. 2020 Sep;37(5):974-976. doi: 10.1111/pde.14285. Epub 2020 Jul 14.


Pachyonychia congenita (PC) is a rare genodermatosis showing heterogeneity with five causative keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). Clinically, PC is characterized by hypertrophic onychodystrophy, painful palmoplantar keratoderma, oral leukokeratosis, and follicular hyperkeratosis. We describe an atypical case of PC in a young Chinese girl presenting with generalized bullae and identified a recurrent heterozygous missense mutation c.1406T > C (p.Leu469Pro) in KRT6A. This suggests that bullae may represent an important feature of KRT6A-related PC.

Keywords: KRT6A; gene mutation; pachyonychia congenita.

Publication types

  • Case Reports

MeSH terms

  • Blister
  • Female
  • Humans
  • Keratin-6
  • Keratoderma, Palmoplantar
  • Mutation
  • Pachyonychia Congenita* / diagnosis
  • Pachyonychia Congenita* / genetics


  • KRT6A protein, human
  • Keratin-6