Taïeb A, Legrain V, Surlève-Bazeille J E, Sarlangue J, Maleville J
Department of Pediatric Dermatology, Hôpital des Enfants, Bordeaux, France.
Dermatologica. 1988;176(2):76-82. doi: 10.1159/000248676.
A male newborn presented at birth with marked skin fragility and widespread erosions of the face, scalp, trunk and extremities. Abnormal associated findings included: cleft palate, hypoplastic low-set ears, bilateral synechiae of the first and second toes, incomplete fusion of both eyelids, and dystrophic nails. There was no evidence of consanguineous parentage. The karyotype was normal. The baby died at 3 days of age because of pulmonary distress. As demonstrated by light and electron microscopy, there were both epidermolytic and dermolytic features. Desmosomes and tonofilaments were decreased in most basal cells. Hemidesmosomes were normal. Anchoring fibrils were rare. This type of epidermolysis bullosa does not fit any known categories of disease.
一名男性新生儿出生时即表现出明显的皮肤脆弱，面部、头皮、躯干和四肢广泛糜烂。相关异常表现包括：腭裂、低位发育不全的耳朵、第一和第二趾双侧粘连、双眼睑未完全融合以及指甲营养不良。无近亲结婚证据。核型正常。婴儿于3日龄时因肺部窘迫死亡。光镜和电镜检查显示，既有表皮松解特征，也有真皮松解特征。大多数基底细胞中的桥粒和张力丝减少。半桥粒正常。锚定纤维罕见。这种大疱性表皮松解症不符合任何已知的疾病类别。
