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- W2005261684 abstract "Pachyonychia congenita는 케라틴 유전자의 돌연변이로 발생하며, 상염색체 우성으로 유전되는 매우 드문 유전성 피부질환이다. 주로 손톱과 발톱, 발바닥, 구강점막 등에 이환되며, 주된 증상으로는 손발톱구만증, 손과 발의 과각화증, 소포성 각화증, 구강점막의 백색각화증 등이 있다. 구강점막의 조직학적 소견으로는 과각화증, 극세포증, 상피세포의 핵 주위 세포질내 공포 형성이 나타난다. 피부병소의 치료법으로는 수술적 요법, 기계적인 방법의 치료, 화학적 요법, 약물요법 등이 이용되고 있으며, 구강병소는 대개 치료를 필요로 하지는 않지만 환자의 불편함이 발생하면 대증요법을 시행한다. 피부병소와 구강병소가 동반되는 환자의 경우 면밀한 관찰을 통해 손톱과 발톱의 이영양증, 발바닥의 과각화, 구강점막의 백색각화증 등의 특징적인 병소가 나타나면 조직 생검을 시행하여 이를 확진할 수 있어야 하며, 환자가 호소하는 불편감에 따른 적절한 치료를 시행하여야 한다. 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." @default.
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- W2005261684 date "2013-06-30" @default.
- W2005261684 modified "2023-10-16" @default.
- W2005261684 title "Pachyonychia congenita of the oral mucosa" @default.
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- W2005261684 doi "https://doi.org/10.14476/jomp.2013.38.2.103" @default.
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