Pachyonychia Congenita

Living reference work entry


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).


Tuberous Sclerosis Complex Hereditary Hemorrhagic Telangiectasia Epidermolysis Bullosa Hidradenitis Suppurativa Nail Plate 
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  1. Almutawa, F., Thusaringam, T., Watters, K., et al. (2015). Pachyonychia congenita (K16) with unusual features and good response to acitretin. Case Report in Dermatology, 7, 220–226.CrossRefGoogle Scholar
  2. 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
  3. Çelebi, J. T., Tanzi, E. L., Yao, Y. J., et al. (1999). Mutat report: Identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2. Journal of Investigation Dermatology, 113, 848–850.CrossRefGoogle Scholar
  4. Conners, J. B., Rahil, A. K., Smith, A. F. D., et al. (2001). Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. British Journal of Dermatology, 144, 1058–1062.CrossRefGoogle Scholar
  5. Dahl, P. R., Daoud, M. S., & Su, W. P. (1995). Jadassohn-Lewandowsky syndrome (pachyonychia congenita). Seminars in Dermatology, 14, 129–134.CrossRefPubMedGoogle Scholar
  6. Dogra, S., Handa, S., & Jain, R. (2002). Pachyonychia congenita affecting only the nails. Pediatric Dermatology, 19, 91–92.CrossRefPubMedGoogle Scholar
  7. Eliason, M. J., Leachman, S. A., Feng, B.-j., et al. (2012). A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. Journal of Academy of Dermatology, 67, 680–686.CrossRefGoogle Scholar
  8. Feinstein, A., Friedman, J., & Schewach, M. (1988). Pachyonychia congenita. Journal of the American Academy of Dermatology, 19, 705–711.CrossRefPubMedGoogle Scholar
  9. Feng, Y. G., Xiao, S. X., Ren, X. R., et al. (2003). Keratin 17 mutation in pachyonychia congenita type 2 with early onset sebaceous cysts. British Journal of Dermatology, 148, 452–455.CrossRefPubMedGoogle Scholar
  10. Forrest, C. E., Casey, G., Mordaunt, D. A., et al. (2016). Pachyonychia congenita: A spectrum of KRT6a mutations in Australian patients. Pediatric Dermatology, 33, 337–342.CrossRefPubMedGoogle Scholar
  11. González-Ramos, J., Sendagorta-Cudós, E., González-López, G., et al. (2015). Efficacy of botulinum toxin in pachyonychia congenita type 1: Report of two new cases. Dermatologic Therapy, 29, 32–36.CrossRefPubMedGoogle Scholar
  12. Haber, R. M., & Rose, T. H. (1986). Autosomal recessive pachyonychia congenita. Archives of Dermatology, 122, 919–923.CrossRefPubMedGoogle Scholar
  13. Hannaford, R. S., & Stapleton, K. (2000). Pachyonychia congenita tarda. Australasian Journal of Dermatology, 41, 175–177.CrossRefPubMedGoogle Scholar
  14. Hawsawi, K. A., & Pope, E. (2010). Yellow nail syndrome. Pediatric Dermatology, 27, 675–676.CrossRefPubMedGoogle Scholar
  15. Inamadar, A. C., & Palit, A. (2012). Nails: Diagnostic clue to genodermatoses. Indian Journal of Dermatology, Venereology and Leprology, 78, 271–278.CrossRefPubMedGoogle Scholar
  16. Irvine, A. D. (2012). Double trouble: Homozygous dominant mutations and hair loss in pachyonychia congenita. Journal of Investigative Dermatology, 132, 1757–1759.CrossRefPubMedGoogle Scholar
  17. 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
  18. Lawry, M., & Ralph, D. C., 3rd. (2005). Nails in systemic disease. In R. K. Scher & D. C. Ralph 3rd (Eds.), Nails: Diagnosis, therapy, surgery (3rd ed., pp. 147–176). Philadelphia: Elsevier Saunders.CrossRefGoogle Scholar
  19. Leachman, S. A., Hickerson, R. P., Hull, P. R., et al. (2008). Therapeutic siRNAs for dominant genetic skin diseases including pachyonychia congenita. Journal of Dermatological Science, 51, 151–157.CrossRefPubMedPubMedCentralGoogle Scholar
  20. Lin, Z., Chen, Q., Lee, M., et al. (2012). Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome. American Journal of Human Genetics, 90, 558–564.CrossRefPubMedPubMedCentralGoogle Scholar
  21. Lucker, G., & Steijlen, P. (1995). Pachyonychia congenita tarda. Clinical and Experimental Dermatology, 20, 226–229.CrossRefPubMedGoogle Scholar
  22. McLean, W. H. I., Rugg, E. L., Lunny, D. P., et al. (1995). Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nature Genetics, 9, 273–278.CrossRefPubMedGoogle Scholar
  23. Moon, S. E., Lee, Y. S., & Youn, J. I. (1994). Eruptive vellus hair cyst and steatocystoma multiplex in a patient with pachyonychia congenita. Journal of the American Academy of Dermatology, 30, 275–276.CrossRefPubMedGoogle Scholar
  24. Mouaci-Midoun, N., Cambiaghi, S., & Abimelec, P. (1996). Pachyonychia congenita tarda. Journal of the American Academy of Dermatology, 35, 334–335.CrossRefPubMedGoogle Scholar
  25. Munro, C. S. (2001). Pachyonychia congenita: Mutations and clinical presentations. British Journal of Dermatology, 144, 929–930.CrossRefPubMedGoogle Scholar
  26. Munro, C. S., Carter, S., Bryce, S., et al. (1994). A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. Journal of Medical Genetics, 31, 675–678.CrossRefPubMedPubMedCentralGoogle Scholar
  27. Pho, L. N., Smith, F. J. D., Konecki, D., et al. (2011). Paternal germ cell mosaicism in autosomal dominant pachyonychia congenita. Archives of Dermatology, 147, 1077–1080.CrossRefPubMedGoogle Scholar
  28. Pohler, E., Mamai, O., Hirst, J., et al. (2012). Happloinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma. Nature Genetics, 44, 1272–1276.CrossRefPubMedGoogle Scholar
  29. Shah, S., Boen, M., Kenner-Bell, B., et al. (2014). Pachyonychia congenita in pediatric patients. Natural history, features, and impact. JAMA Dermatology, 150, 146–153.CrossRefPubMedGoogle Scholar
  30. Smith, F. J. D., Corden, L. D., Rugg, E. L., et al. (1997). Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex. Journal of Investigative Dermatology, 108, 220–223.CrossRefPubMedGoogle Scholar
  31. Smith, F. J. D., Jonkman, M. F., van Goor, H., et al. (1998). A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Human Molecular Genetics, 7, 1143–1148.CrossRefPubMedGoogle Scholar
  32. Smith, F. J. D., McKenna, K. E., Irvine, A. D., et al. (1999a). A mutation detection strategy for the human K6A gene and novel mutations in two cases of pachyonychia congenita type 1. Experimental Dermatology, 8, 109–114.CrossRefPubMedGoogle Scholar
  33. Smith, F. J. D., McKusick, V. A., Nielsen, K., et al. (1999b). Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1. Prenatal Diagnosis, 19, 941–946.CrossRefPubMedGoogle Scholar
  34. Smith, F. J. D., Hansen, C. D., & Hull, P. R., et al. (2014). Pachyonychia congenita. Updated 24 July 2014. Available at:
  35. Su, W. P. D., Chun, S., Hammond, D. E., et al. (1990). Pachyonychia congenita: A clinical study of 12 cases and review of the literature. Pediatric Dermatology, 7, 33–38.CrossRefPubMedGoogle Scholar
  36. Tariq, S., Schmitz, M. L., & Kanjia, M. K. (2016). Chronic foot pain due to pachyonychia congenita in a pediatric patient: A successful management strategy. A & A Case Reports, 6, 305–307.CrossRefPubMedGoogle Scholar
  37. Terrinoni, A., Smith, F. J. D., Didona, B., et al. (2001). Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. Journal of Investigative Dermatology, 117, 1391–1396.CrossRefPubMedGoogle Scholar
  38. Tosti, A., & Piraccini, B. M. (2005). Pediatric diseases. In R. K. Scher & D. C. Ralph 3rd (Eds.), Nails: Diagnosis, therapy, surgery (3rd ed., pp. 229–244). Philadelphia: Elsevier Saunders.CrossRefGoogle Scholar
  39. Tosti, A., Iorizzo, M., Piraccini, B. M., et al. (2006). The nail in systemic diseases. Dermatologic Clinics, 24, 341–347.CrossRefPubMedGoogle Scholar
  40. Wilson, N. J., Pérez, M. L., Vahlquist, A., et al. (2012). Homozygous dominant missense mutation in keratin 17 leads to alopecia in addition to severe pachyonychia congenita. Journal of Investigative Dermatology, 132, 1921–1924.CrossRefPubMedGoogle Scholar
  41. Wilson, N. J., Hansen, C. D., Azkur, D., et al. (2013). Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy – Expanding the differential diagnosis for pachyonychia congenita. Journal of Dermatological Science, 70, 58–60.CrossRefPubMedGoogle Scholar
  42. Wilson, N. J., O’Toole, E. A., Milstone, L. M., et al. (2014). The molecular genetic analysis of the expanding pachyonychia congenita case collection. British Journal of Dermatology, 171, 343–355.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2016

Authors and Affiliations

  1. 1.Medical Genetics, Shriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

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