Congenital localized skin defect and epidermolysis bullosa hereditaria letalis.
Congenital localized skin defect and epidermolysis bullosa hereditaria letalis.
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先天性局部皮肤缺损和遗传性大疱性表皮松解症。
DOI：
10.2340/0001555559533537
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发表时间：
1979
影响因子：
3.6
通讯作者：
Drzewiecki Kt
中科院分区：
文献类型：
--
作者：
I. Skoven;Drzewiecki Kt
遗传性大疱性表皮病（Herlitz）很少出现所有的临床特征，最初被描述为属于综合征。除了口腔中的皮肤和粘膜起泡外，所呈现的病例还显示出营养不良的指甲、先天性局部皮肤缺损伴底层结构发育不全以及患肢足部罕见但特征性的畸形。在6个月龄死亡之前没有瘢痕形成。水疱的组织学检查显示基底细胞的基底膜和细胞膜之间的分离。在皮肤缺损的区域，可以看到正常外观的毛囊和汗腺。对该综合征与Bart综合征的关系进行了讨论。
Epidermolysis bullosa hereditaria letalis (Herlitz) rarely appears with all the clinical characteristics originally described as belonging to the syndrome. Besides the blistering of the skin and mucous membranes in the oral cavity, the case presented showed dystrophic nails, congenital localized skin defects with hypoplasia of underlying structures and a rare but characteristic malformation of the foot of the affected extremity. No scar formation occurred before death at the age of 6 months. Histological examination of the blisters showed separation between the basement membrane and the cell membrane of the basal cells. In areas of skin defects, normal appearing hair follicles and sweat glands were seen. The relation of the syndrome to Bart's syndrome is discussed.