손발톱 이상만을 보인 모자에서 발생한 선천손발톱비대증

Abstract

Pachyonychia congenita (PC) is a rare autosomal-dominant ectodermal dysplasia, which is characterized by hypertrophic nail dystrophy, diffuse or focal symmetrical hyperkeratosis of the palms and soles, oral leukokeratosis, follicular keratosis on the extensor surfaces of the extremities, and other ectodermal defects. However, the variable degree of gene mutation may result in nail abnormalities alone. The nail changes presented in our patient are the only clinical manifestation. Hypertrophic nail dystrophy and yellowish discoloration, without involving any other organs, were shown in both mother and baby since birth. To the best of our knowledge, the case of PC affecting only the nails has never been reported in Korea before. Herein, we report monosymptomatic form of PC, which is notable for its rareness and unique pattern, distinct from previously reported cases.