Skoven I, Drzewiecki K T
Acta Derm Venereol. 1979;59(6):533-7.
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.
致死性遗传性大疱性表皮松解症（赫利茨型）很少以最初描述的该综合征的所有临床特征出现。除了皮肤和口腔黏膜水疱形成外，该病例还表现为甲营养不良、先天性局限性皮肤缺损伴深部结构发育不全以及患侧足部一种罕见但具有特征性的畸形。在6个月龄死亡前未出现瘢痕形成。水疱的组织学检查显示基底膜与基底细胞的细胞膜分离。在皮肤缺损区域可见外观正常的毛囊和汗腺。文中讨论了该综合征与巴特综合征的关系。
