Skip to main content
padlock icon - secure page this page is secure

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

Buy Article:

$52.00 + tax (Refund Policy)

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.
No References
No Citations
No Supplementary Data
No Article Media
No Metrics

Keywords: KRT6A; gene mutation; pachyonychia congenita

Document Type: Research Article

Publication date: September 1, 2020

  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more