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http://dx.doi.org/10.14476/jomp.2013.38.2.103

Pachyonychia congenita of the oral mucosa  

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)
Publication Information
Journal of Oral Medicine and Pain / v.38, no.2, 2013 , pp. 103-108 More about this Journal
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.
Keywords
Pachyonychia congenita; Oral mucosa; Leukokeratosis;
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