Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene

J Eur Acad Dermatol Venereol. 2017 Feb;31(2):e94-e96. doi: 10.1111/jdv.13800. Epub 2016 Jul 21.

Authors

F Cammarata-Scalisi¹, K Natsuga², E Toyonaga², W Nishie², H Shimizu², A Avendaño¹, D Araque¹, G Da Silva¹, E Bellacchio³, M Callea⁴

Affiliations

¹ Unit of Medical Genetics, Department of Pediatrics, Faculty of Medicine, University of The Andes, Mérida, Venezuela.
² Department of Dermatology, School of Medicine, Hokkaido University, Sapporo, Japan.
³ Bambino Gesù Children's Hospital IRCCS, Research Laboratory, Rome, Italy.
⁴ Department of Dentistry, Bambino Gesù Children's Hospital - IRCCS, Viale S. Paolo 15, 00147 Rome, Italy.

PMID: 27445120
DOI: 10.1111/jdv.13800

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Child
Female
Humans
Keratin-6 / genetics*
Male
Mutation*
Pachyonychia Congenita / genetics*
Pedigree

Substances

KRT6A protein, human
Keratin-6