Pachyonychia congenita (PC) is a group of rare genetically inherited diseases characterized by nail dystrophy and by varying features of ectodermal dysplasias. There are two major clinical subtypes recognized: type I with oral leukokeratosis and type II with multiple pilosebaceous cysts (Çelebi et al. 1999).
KeywordsTuberous Sclerosis Complex Hereditary Hemorrhagic Telangiectasia Epidermolysis Bullosa Hidradenitis Suppurativa Nail Plate
- Cammarata-Scalisi, F., Natsuga, K., & Toyonaga, E., et al. (2016). Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene. Journal of European Academy of Dermatology and Venereology. [Epub ahead of print].Google Scholar
- Irvine, A. D., & Mellerio, J. E. (2010). Genetics and genodermatoses. In T. Burns, S. Breathnach, N. Cox, & C. Griffiths (Eds.), Rook’s textbook of dermatology (8th ed., pp. 15.1–15.97). Oxford: Wiley-Blackwell.Google Scholar
- Smith, F. J. D., Hansen, C. D., & Hull, P. R., et al. (2014). Pachyonychia congenita. Updated 24 July 2014. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1280/