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Pachyonychia Congenita

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Atlas of Genetic Diagnosis and Counseling
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Abstract

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).

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References

  • 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.

    Article  Google Scholar 

  • 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 

  • 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.

    Article  Google Scholar 

  • 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.

    Article  Google Scholar 

  • Dahl, P. R., Daoud, M. S., & Su, W. P. (1995). Jadassohn-Lewandowsky syndrome (pachyonychia congenita). Seminars in Dermatology, 14, 129–134.

    Article  CAS  PubMed  Google Scholar 

  • Dogra, S., Handa, S., & Jain, R. (2002). Pachyonychia congenita affecting only the nails. Pediatric Dermatology, 19, 91–92.

    Article  PubMed  Google Scholar 

  • 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.

    Article  Google Scholar 

  • Feinstein, A., Friedman, J., & Schewach, M. (1988). Pachyonychia congenita. Journal of the American Academy of Dermatology, 19, 705–711.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • Haber, R. M., & Rose, T. H. (1986). Autosomal recessive pachyonychia congenita. Archives of Dermatology, 122, 919–923.

    Article  CAS  PubMed  Google Scholar 

  • Hannaford, R. S., & Stapleton, K. (2000). Pachyonychia congenita tarda. Australasian Journal of Dermatology, 41, 175–177.

    Article  CAS  PubMed  Google Scholar 

  • Hawsawi, K. A., & Pope, E. (2010). Yellow nail syndrome. Pediatric Dermatology, 27, 675–676.

    Article  PubMed  Google Scholar 

  • Inamadar, A. C., & Palit, A. (2012). Nails: Diagnostic clue to genodermatoses. Indian Journal of Dermatology, Venereology and Leprology, 78, 271–278.

    Article  PubMed  Google Scholar 

  • Irvine, A. D. (2012). Double trouble: Homozygous dominant mutations and hair loss in pachyonychia congenita. Journal of Investigative Dermatology, 132, 1757–1759.

    Article  CAS  PubMed  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 

  • 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.

    Chapter  Google Scholar 

  • 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Lucker, G., & Steijlen, P. (1995). Pachyonychia congenita tarda. Clinical and Experimental Dermatology, 20, 226–229.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • Mouaci-Midoun, N., Cambiaghi, S., & Abimelec, P. (1996). Pachyonychia congenita tarda. Journal of the American Academy of Dermatology, 35, 334–335.

    Article  CAS  PubMed  Google Scholar 

  • Munro, C. S. (2001). Pachyonychia congenita: Mutations and clinical presentations. British Journal of Dermatology, 144, 929–930.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  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/

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Chapter  Google Scholar 

  • Tosti, A., Iorizzo, M., Piraccini, B. M., et al. (2006). The nail in systemic diseases. Dermatologic Clinics, 24, 341–347.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  Google Scholar 

  • 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.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Correspondence to Harold Chen .

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Chen, H. (2016). Pachyonychia Congenita. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_189-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_189-2

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  • Online ISBN: 978-1-4614-6430-3

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