Pachyonychia congenita of the oral mucosa

구강점막의 Pachyonychia Congenita

  • Shim, Young-Joo (Department of orofacial pain and oral medicine, Daejeon Dental Hospital, Wonkwang Dental research institute, Wonkwang University) ;
  • Yoon, Jung-Hoon (Department of Oral & Maxillofacial Pathology, Daejeon Dental Hospital, Wonkwang Bone Regeneration Research Institute, Wonkwang University) ;
  • Kang, Jin-Kyu (Department of orofacial pain and oral medicine, Daejeon Dental Hospital, Wonkwang Dental research institute, Wonkwang University)
  • 심영주 (원광대학교 치과대학 구강내과학교실 및 원광치의학연구소) ;
  • 윤정훈 (원광대학교 치과대학 대전치과병원 구강병리과 및 원광골재생연구소) ;
  • 강진규 (원광대학교 치과대학 구강내과학교실 및 원광치의학연구소)
  • Received : 2013.04.20
  • Accepted : 2013.05.08
  • Published : 2013.06.30


Pachyonychia congenita is a very rare group of an autosomal dominant genodermatosis caused by heterozygous mutations in the keratin genes. The clinical findings affect nail and toenails, soles, and oral mucosa, etc. The main symptoms include nail and toenail dystrophy, hyperkeratosis of hands and feet, follicular hyperkeratosis, oral leukokeratosis. Many therapeutic modalities have been used to treat skin lesion, including surgical and mechanical procedures, chemical agents, medications. Oral lesions but not usually require treatment, if the patient's discomfort occurs, symptomatic therapy is performed. In the patients accompanied by oral and skin lesions, clinician have to observe specific manifestations with dystrophy of the fingernails and toenails, plantar hyperkeratosis, oral leukokeratosis and tissue biopsy is required for diagnosis confirmed.


Supported by : 원광대학교


  1. Neville BW, Damm DD, Allen CM, Bouquot JE. Oral and Maxillofacial Pathology. 3rd ed., St. Louis, 2009, W.B. Saunders Co., pp. 745-746.
  2. Eliason MJ, Leachman SA, Feng BJ, Schwartz ME, Hansen CD. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. J Am Acad Dermatol 2012;67(4):680-686.
  3. Muller C. Zur Kasuistic der kongenitalen onchogryphosis [on the causes of congenital onychogryposis]. Muenchener Medizinische Wochenschrift 1904;49:2180 -2182.
  4. Wilson AG, Cantar MB. Three cases of hereditary hyperkeratosis of the nail-bed. Br J Dermatol 1904;17:13-14.
  5. Jadassohn J, Lewandowsky F. Pachyonychia congenita. In: Neisser A, Jacoby E, eds. Ikonographia dermatologica. Berlin: Urban & Schwarzenberg, 1906: 29-31.
  6. Scully C, Langdon J, Evans J. Marathon of eponyms: 10 Jadassohn-Lewandowsky syndrome (Pachyonychia congenita) Oral Dis 2010;16(3):310-311.
  7. Kaspar RL. Challenges in developing therapies for rare diseases including pachyonychia congenita. J Invest Dermatol Symp Proc 2005;10:62-66.
  8. Kumer L. Loos HO. Congenital pachyonychia (Riehl type). Wien Klin Wochenschr 1935:48:174-178.
  9. Feinstein A, Friedman J, Schewach-Millet M. Pachyonychia congenita. J Am Acad Dermatol 1988; 19(4):705-711.
  10. Schonfeld PHIR. The pachyonychia congenita syndrome. Acta Derm Venereol (Stockh) 1980;60:45-49.
  11. Sivasundram A, Rajagopalan K, Sarojini T. Pachyonyehia congenita. Int J Dermatol 1985;24:179-180.
  12. Munro CS, Carter S, Bryce S, et al. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21. J Med Genet 1994;31(9):675-678.
  13. Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet 1995;10(3):363-365.
  14. McLean WH, Rugg EL, Lunny DP, et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet 1995;9(3):273-278.
  15. Smith FJ, Jonkman MF, van Goor H, et al. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet 1998;7(7):1143-1148.
  16. Goldberg I, fruchter D, Meilick A, Schwartz ME, Sprecher E. Best tretment practices for pachyonychia congenita. J Eur Acad Dermatol Venereol 2013 Jan 30. doi: 10.1111/jdv.12098. [Epub ahead of print]
  17. Carroll MA, Kim HJ, Skidmore RA. What syndrome is this? Pachyonychia congenita. Pediatr Dermatol 1997;14(6):491-493.
  18. Milstone LM, Fleckman P, Leachman SA, et al. Treatment of pachyonychia congenita. J Investig Dermatol Symp Proc 2005;10(1):18-20.
  19. da Silva Santos PS, Mannarino F, Lellis RF, Osório LH. Oral manifestations of pachyonychia congenita. Dermatol Online J 2010;16(10):3.