Korean J Dermatol.
2004 Oct;42(10):1372-1374.
A Case of Pachyonychia Congenita
- Affiliations
-
- 1Department of Dermatology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. jmyang@smc.samsung.co.kr
Abstract
- 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.
