Pachyonychia congenita is an uncommon genodermatosis of abnormal keratinization characterized by dystrophic nails and hyperkeratosis of the palms, soles, oral mucosa, and hair follicles. Mutations in keratin 6, 16, and 17 have been identified in a number of families. The 4 major features of the synd...
Pachyonychia congenita is an uncommon genodermatosis of abnormal keratinization characterized by dystrophic nails and hyperkeratosis of the palms, soles, oral mucosa, and hair follicles. Mutations in keratin 6, 16, and 17 have been identified in a number of families. The 4 major features of the syndrome are onychogryphosis, palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Treatment is only palliative, however, with attempts directed at improving symptoms that cause significant disability. We report a case of pachyonychia congenita in a 5-day-newborn with characteristic changes of nail, palms, soles, and oral mucosa.
Pachyonychia congenita is an uncommon genodermatosis of abnormal keratinization characterized by dystrophic nails and hyperkeratosis of the palms, soles, oral mucosa, and hair follicles. Mutations in keratin 6, 16, and 17 have been identified in a number of families. The 4 major features of the syndrome are onychogryphosis, palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Treatment is only palliative, however, with attempts directed at improving symptoms that cause significant disability. We report a case of pachyonychia congenita in a 5-day-newborn with characteristic changes of nail, palms, soles, and oral mucosa.
※ AI-Helper는 부적절한 답변을 할 수 있습니다.