Table of Content

Archive

Summer 2015, Vol. 23 No. 2

Hong Kong J. Dermatol. Venereol. (2015) 23, 71-75


Case Report

Type 1 segmental Darier's disease: report of two cases with favourable response to topical retinoids

第一型節段性毛囊角化病:兩個對外用維甲酸有良好效果的病例報告

Ö Bakar, EÖ Durmaz, E Sezer, ED Çetin

Abstract

Darier's disease is a rare late-onset genetic disorder of keratinisation. Mosaic forms of the disease characterised by localised and unilateral keratotic papules carrying post-zygotic ATP2A2 mutation in affected areas have been documented. Segmental forms of Darier's disease are classified into two clinical subtypes: type 1 manifesting with distinct lesions on a background of normal appearing skin and type 2 with well-defined areas of Darier's disease occurring on a background of less severe non-mosaic phenotype. Herein we describe two cases of type 1 segmental Darier's disease with favourable response to topical retinoids.

毛囊角化病是一種罕見的遲發性角質化遺傳病。基因鑲嵌型病例的特點是局部單側的角化性丘疹,患處組織有合子後ATP2A2基因的突變已有記載。毛囊角化病的節段性病例分為兩種臨床亞型:第一型是除明顯的病灶外,患者其他皮膚並無異樣;第二型則是明顯的局部毛囊角化病患處以外,其他皮膚都有相對輕微的非鑲嵌型表型病徵。本文介紹的兩個第一型節段性毛囊角化病個案,患者都對外用維甲酸有良好的治療效果。

Keywords: Darier's disease, segmental, therapy, topical retinoids

關鍵詞: 毛囊角化病、節段性、治療、外用維甲酸