PDF(Pubmed)
Abstract：
BACKGROUND: Epidermolysis bullosa (EB) represents a group of rare disorders, genetically determined, characterized by skin fragility, blister formation and erosions due to minimal trauma. Depending on the ultrastructural level of skin cleavage, above or below the basement membrane, epidermolysis bullosa can be classified into four major types: simplex, junctional, dystrophic and Kindler Syndrome. In the junctional form of EB, the cleavage level is at the dermo-epidermal junction and the targeted proteins are laminin, type XVII collagen and integrins. The dystrophic form of EB is characterized by cleavage in the dermal layer, collagen VII being the targeted protein. In Kindler EB, multiple levels of cleavage have been described. The mutated gene is FERMT1. Another classification of this disease refers to phenotypic aspects such as extracutaneous lesions, severity, and distribution. The management of epidermolysis bullosa includes supportive wound treatments as well as nutritional support.
METHODS: We present a case of epidermolysis bullosa presented at birth, in a newborn with no family history of bullous skin conditions. The clinical presentation revealed extensive denuded areas and significant skin fragility as well as mucous and nail involvement. Prenatal diagnosis is very hard to achieve due to increased genetic heterogeneity of the disease. The short-term results were good. The importance of prenatal testing and possibilities of diagnosis are reviewed in this article.
CONCLUSIONS: EB is a devastating disease. The presented case had a favorable evolution, with good short-term results. Significant morbidity can result from secondary infections of blisters and complications of the extracutaneous manifestations.
METHODS: We present a case of epidermolysis bullosa presented at birth, in a newborn with no family history of bullous skin conditions. The clinical presentation revealed extensive denuded areas and significant skin fragility as well as mucous and nail involvement. Prenatal diagnosis is very hard to achieve due to increased genetic heterogeneity of the disease. The short-term results were good. The importance of prenatal testing and possibilities of diagnosis are reviewed in this article.
CONCLUSIONS: EB is a devastating disease. The presented case had a favorable evolution, with good short-term results. Significant morbidity can result from secondary infections of blisters and complications of the extracutaneous manifestations.
摘要：
背景：大疱性表皮松解症（EB）是一组罕见的疾病，基因决定的，以皮肤脆弱为特征，由于最小的创伤，水疱形成和糜烂。根据皮肤分裂的超微结构水平，在基底膜上方或下方，大疱性表皮松解症可以分为四种主要类型：单纯性，交界处，营养不良和金德勒综合症。在EB的连接形式中，裂解水平在真皮-表皮连接处，目标蛋白是层粘连蛋白，XVII型胶原和整合素。EB的营养不良形式的特征是在真皮层中裂解，胶原蛋白VII为目标蛋白。在KindlerEB,已经描述了多个水平的切割。突变的基因是FERMT1。这种疾病的另一种分类是指表型方面，如皮肤外病变，严重程度,和分配。大疱性表皮松解症的治疗包括支持性伤口治疗以及营养支持。
方法：我们介绍一例出生时大疱性表皮松解症，新生儿无家族大疱性皮肤病史。临床表现显示出广泛的剥蚀区域和明显的皮肤脆性以及粘液和指甲受累。由于疾病的遗传异质性增加，产前诊断很难实现。短期结果很好。本文综述了产前检查的重要性和诊断的可能性。
结论：EB是一种毁灭性疾病。提出的案例有一个有利的演变，良好的短期结果。水疱的继发感染和皮外表现的并发症可能导致严重的发病率。
方法：我们介绍一例出生时大疱性表皮松解症，新生儿无家族大疱性皮肤病史。临床表现显示出广泛的剥蚀区域和明显的皮肤脆性以及粘液和指甲受累。由于疾病的遗传异质性增加，产前诊断很难实现。短期结果很好。本文综述了产前检查的重要性和诊断的可能性。
结论：EB是一种毁灭性疾病。提出的案例有一个有利的演变，良好的短期结果。水疱的继发感染和皮外表现的并发症可能导致严重的发病率。
