Epidermolysis Bullosa Herpetiformis (Dowling-Meara) with the Presenting Sign as Congenital Localized Absence of Skin

以先天性皮膚缺損為初始表現之Dowling-Meara氏疱疹樣單純型水疱性表皮鬆解症

劉方琦(Fang-Chi Liu) ； 陳秀琴(Hsiu-Chin Chen) ； 蘇信義(Hsin-Yi Su) ； 曾嶔元(Chin-Yuan Tzen)

《中華皮膚科醫學雜誌》 20卷2期 (2002/06) Pp. 136-141

摘要

本文報告一位男嬰，初生時於左內側踝部及足背有七乘八平方公分，境界分明，由透明膜所覆蓋之潰瘍。許多大小不一的水泡及潰瘍於初生24小時後陸續發生，主要分佈於雙側手部，腳部，及指甲邊緣處。病灶處切片檢查顯示表皮下層水泡伴隨真皮上層輕度血管周圍發炎細胞浸潤。電子顯微鏡顯示表皮基底細胞溶解及圓形高電子密度之緊張絲團塊聚集(tonofilament clumping)於基底細胞內。免疫燭光檢查及Tzanck水泡液抹片檢查均為陰性。因此診斷為以先天性懷皮缺損為初始表現之Dowlig-Meara氏疱疹樣單純型水疱性表皮鬆解症。本文將討論此少見疾病之臨床表現及緊張絲團塊(tonofilament clumps)在其致病機轉上所代表的意義。

並列摘要

We herein present a male newborn who had one 7×8cm2, sharply-demarcated ulcer covered by a
glistening membrane over the medial aspect of the left ankle and part of the dorsal foot at birth. Multiple
variable-sized blisters and erosions, mainly distributed over bilateral hands, feet and periungal areas
developed soon after delivery. Biopsy of the blister showed subepidermal bulla with mild perivascular
inflammatory infiltration in the upper dermis. Ultrasrtuctural study revealed intraepidermal blister, basal
cell cytolysis and electron-dense, round tonofilament clumps within cytoplasm of basal cells.
Immunofluorescence study and Tzanck smear from the base of blister were negative. A diagnosis of
epidermolysis bullosa herpetiformis Dowling-Meara (DM-EBS) with the initial presenting sign as
congenital localized absence of skin (CLAS) was made. In this article, we review the clinical
manifestations and the significance of tonofilament clumps in the pathogenesis of this uncommon
genodermatosis.

並列關鍵字

DM-EBS ； Congenital localized absence of skin ； Tonofilament clumps