Recessive dystrophic epidermolysis bullosa: presentation of two forms.
Recessive dystrophic epidermolysis bullosa: presentation of two forms.
复制标题
隐性营养不良性大疱性表皮松解症：两种形式的表现。
作者：
L. Medenica;M. Lens
营养不良性大疱性表皮松解症 (DEB) 和先天性皮肤发育不全 (ACC)，也称为先天性局部皮肤缺如 (CLAS) 是罕见的临床疾病。先天性皮肤发育不全与单纯性、交界性或营养不良型大疱性表皮松解症 (EB) 一起出现被归类为 6 型 ACC。这种关联最初在文献中被描述并称为巴特综合征。我们描述了两例隐性 DEB (RDEB) 病例，一例为主要 Hallopeau-Siemens (RDEB-HS) 亚型，另一例为与下肢 ACC 相关的次要 RDEB 反位 (RDEB-I) 亚型。提供了这两个病例的完整临床病史和透射电子显微镜检查结果。迄今为止，文献中仅报道了 5 例伴有 ACC 的 RDEB 病例。文献中对 RDEB 和 ACC 关联的详细描述很少。这种情况在临床实践中似乎比文献中描述的更为常见。我们的研究结果证实，巴特综合征这一术语不应被视为最初描述的显性营养不良 EB 的一个单独实体或临床变体。先天性局部皮肤缺失可能与 EB 的三种主要类型（单纯性、交界性或营养不良）中的任何一种有关。
Dystrophic epidermolysis bullosa (DEB) and aplasia cutis congenita (ACC), also known as congenital localized absence of skin (CLAS) are rare clinical entities. Aplasia cutis congenita presented in conjunction with simplex, junctional, or dystrophic types of epidermolysis bullosa (EB) is classified as type-6 ACC. This association was initially described and referred in the literature as Bart syndrome. We describe two cases of recessive DEB (RDEB), one with the major Hallopeau-Siemens (RDEB-HS) subtype and one case with the minor RDEB inversa (RDEB-I) subtype associated with ACC localized on the lower extremities. Full clinical history and transmission electron microscopic findings are presented for both cases. To date, only five cases of RDEB presenting with ACC have been reported in the literature. Detailed descriptions of the association of RDEB and ACC in the literature are scarce. It seems that this condition is probably more common in clinical practice than described in the literature. Our findings confirm that the term, Bart syndrome, should not be considered as a separate entity or clinical variant of dominant dystrophic EB as it was initially described. Congenital localized absence of skin may be associated with any of the three major types of EB (simplex, junctional, or dystrophic).