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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

Abstract

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.

Acknowledgement

Supported by : 원광대학교

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