先天性厚甲症是一種罕見的顯性遺傳疾病,其特徵為指[趾]甲肥厚、皮膚及黏膜的過度角化。主要分成兩型,是否合併有毛囊或皮脂腺囊腫是兩主要的區別。本病例報告一型第二型的先天性厚甲症的病人,也是台灣第一例第二型的先天性厚甲症病例;並報告使用etretinate治療角化的經驗。
Pachyonychia congenital type2 (PC-2), also known as Jackson-Lawler type PC, is a rare autosomal dominant disorder characterized by hypertrophic nail dystrophy associated with focal palmoplantar keratoderma and multiple pilosebceous cysts. Only one case of PC-1 has been previously reported in Taiwan. In this report, we describe a typical case of PC-2, the first such case to be documented in Taiwan. The keratoderma was treated with etretinate, which was quite effective in reducing the hyperkeratotic lesions on the patient’s palms and soles.