Generalized bullae in a young girl with KRT6A-related pachyonychia congenita.
KRT6A
gene mutation
pachyonychia congenita
Journal
Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
pubmed:
15
7
2020
medline:
28
4
2021
entrez:
15
7
2020
Statut:
ppublish
Résumé
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.
Substances chimiques
KRT6A protein, human
0
Keratin-6
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
974-976Subventions
Organisme : Peking University Shenzhen Hospital
ID : JCYJ2018011
Organisme : Shenzhen Sanming Project
ID : SZSM201812059
Informations de copyright
© 2020 Wiley Periodicals LLC.
Références
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Wilson NJ, Leachman SA, Hansen CD, et al. A large mutational study in pachyonychia congenita. J Invest Dermatol. 2011;131:1018-1024.
Forrest CE, Casey G, Mordaunt DA, Thompson EM, Gordon L. Pachyonychia congenita: a spectrum of KRT6a mutations in Australian patients. Pediatr Dermatol. 2016;33:337-342.
Smith FJ, Liao H, Cassidy AJ, et al. The genetic basis of pachyonychia congenita. J Invest Dermatol Symp Proc. 2005;10:21-30.
Zhou HL, Yang S, Gao M, et al. A novel missense mutation L468Q of keratin 6a in pachyonychia congenita type 1. J Eur Acad Dermatol Venereol. 2007;21:351-355.