Shimizu H, Suzumori K, Hatta N, Nishikawa T
Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
Arch Dermatol. 1996 Aug;132(8):919-25.
The expression of basement membrane-related antigens was surveyed in 2 Japanese siblings who died of pyloric atresia-junctional epidermolysis bullosa syndrome in early infancy.
The skin specimens of both patients demonstrated complete absence of detectable alpha 6 integrin and markedly reduced amounts of beta 4 integrin. All the other subtypes of epidermolysis bullosa used as controls demonstrated normal intensity of expression of alpha 6 and beta 4 integrin. In contrast to the negative immunoreactivity of monoclonal antibody GB3 in gravis-Herlitz junctional epidermolysis bullosa (n = 4), a bright linear pattern along the epidermal basement, membrane was demonstrated in the skin of both siblings with pyloric atresia-junctional epidermolysis bullosa syndrome. Based on these data, a monoclonal antibody against alpha 6 integrin was successfully used as a prenatal diagnostic probe for a skin biopsy specimen from a fetus at risk for pyloric atresia-junctional epidermolysis bullosa syndrome in this family.
The absence of detectable alpha 6 integrin, but not beta 4 integrin, in these cases raises the possibility that alpha 6 integrin or its ligands are responsible for the pyloric atresia-junctional epidermolysis bullosa syndrome phenotype seen in this family.
对2名死于婴儿早期幽门闭锁-交界性大疱性表皮松解症的日本同胞的基底膜相关抗原表达进行了研究。
两名患者的皮肤标本均显示完全检测不到α6整合素，且β4整合素的含量明显减少。用作对照的所有其他大疱性表皮松解症亚型均显示α6和β4整合素的正常表达强度。与重症-赫利茨交界性大疱性表皮松解症（n = 4）中GB3单克隆抗体的阴性免疫反应性相反，在患有幽门闭锁-交界性大疱性表皮松解症综合征的两名同胞的皮肤中，沿表皮基底膜呈现明亮的线性模式。基于这些数据，针对α6整合素的单克隆抗体成功用作该家族中一名有幽门闭锁-交界性大疱性表皮松解症综合征风险胎儿皮肤活检标本的产前诊断探针。
在这些病例中检测不到α6整合素而非β4整合素，这增加了α6整合素或其配体导致该家族中所见幽门闭锁-交界性大疱性表皮松解症综合征表型的可能性。
