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Xu, R. Pachyonychia Congenita. Encyclopedia. Available online: https://encyclopedia.pub/entry/4877 (accessed on 26 September 2026).
Xu R. Pachyonychia Congenita. Encyclopedia. Available at: https://encyclopedia.pub/entry/4877. Accessed September 26, 2026.
Xu, Rita. "Pachyonychia Congenita" Encyclopedia, https://encyclopedia.pub/entry/4877 (accessed September 26, 2026).
Xu, R. (2020, December 24). Pachyonychia Congenita. In Encyclopedia. https://encyclopedia.pub/entry/4877
Xu, Rita. "Pachyonychia Congenita." Encyclopedia. Web. 24 December, 2020.
Pachyonychia Congenita
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/pachyonychia-congenita

Pachyonychia congenita is a condition that primarily affects the skin and nails. The signs and symptoms of this condition usually become apparent within the first few years of life.

genetic conditions

References

  1. Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD. A review of theclinical phenotype of 254 patients with genetically confirmed pachyonychiacongenita. J Am Acad Dermatol. 2012 Oct;67(4):680-6. doi:10.1016/j.jaad.2011.12.009.
  2. McLean WH, Hansen CD, Eliason MJ, Smith FJ. The phenotypic and moleculargenetic features of pachyonychia congenita. J Invest Dermatol. 2011May;131(5):1015-7. doi: 10.1038/jid.2011.59.
  3. O'Toole EA, Kaspar RL, Sprecher E, Schwartz ME, Rittié L. Pachyonychiacongenita cornered: report on the 11th Annual International PachyonychiaCongenita Consortium Meeting. Br J Dermatol. 2014 Nov;171(5):974-7. doi:10.1111/bjd.13341.
  4. Shah S, Boen M, Kenner-Bell B, Schwartz M, Rademaker A, Paller AS.Pachyonychia congenita in pediatric patients: natural history, features, andimpact. JAMA Dermatol. 2014 Feb;150(2):146-53. doi:10.1001/jamadermatol.2013.6448.
  5. Smith FJ, Liao H, Cassidy AJ, Stewart A, Hamill KJ, Wood P, Joval I, vanSteensel MA, Björck E, Callif-Daley F, Pals G, Collins P, Leachman SA, Munro CS, McLean WH. The genetic basis of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005 Oct;10(1):21-30. Review.
  6. Smith FJD, Hansen CD, Hull PR, Kaspar RL, McLean WHI, O’Toole E, Sprecher E.Pachyonychia Congenita. 2006 Jan 27 [updated 2017 Nov 30]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK1280/
  7. Wilson NJ, O'Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E,Schwartz ME, McLean WH, Sprecher E, Smith FJ. The molecular genetic analysis ofthe expanding pachyonychia congenita case collection. Br J Dermatol. 2014Aug;171(2):343-55. doi: 10.1111/bjd.12958.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
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Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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