掌蹠表皮鬆解性角化症－病例報告及文獻回顧

Epidermolytic Palmoplantar Keratoderma-Report of a Case and Review of the Literature

劉意臨(Yi-Lin Liu) ； 劉明真(Ming-Tzen Liu) ； 王文正(Wen-Jen Wang)

《中華皮膚科醫學雜誌》 24卷3期 (2006/09) Pp. 213-219

https://doi.org/10.29784/DS.200609.0009

摘要

掌蹠表皮鬆解性角化症是一罕見體顯性遺傳疾病，主要是因為九號角質素基因發生突變而引起掌蹠角化異常。在此我們報導一名20歲男性病人，在出生不久即被發現手掌腳掌有角質過厚現象；一些親屬亦有類似病症，顯示是體顯性遺傳模式。病理組織檢驗可見到表皮裂解角質增厚的表現。臨床病理表現及家族史都符合掌蹠表皮鬆解性角化症的診斷。此外，以基因定序分析研究發現所有家族病患均有一個新的點突變L159R。

並列摘要

Epidermolytic palmoplantar keratoderma, a rare autosomal dominant hereditary disease, is a keratinization disorder of palms and soles caused by mutation in the keratin 9 gene. Herein, we describe a 20 year-old male with hard, hyperkeratotic plaques on his palms and soles since his birth. Some members of the patient s family were similarly affected and indicated an autosomal dominant trait of inheritance. The skin biopsy specimen showed the histologic features of epidermolytic hyperkeratosis. The clinicopathologic features and family history are compatible with epidermolytic palmoplantar keratoderma. Besides, sequence analysis demonstrated a new point mutation of at codon 159 (L159R) in all affected family members.

並列關鍵字

Epidermolytic palmoplantar keratoderma ； Epidermolytic hyperkeratosis ； Keratin 9 gene