先天性大疱性表皮松解症诊断及治疗进展

Update on the diagnosis and treatment of inherited epidermolysis bullosa

先天性大疱性表皮松解症是一组以皮肤脆性增加、轻微摩擦或外伤即可导致皮肤或黏膜水疱、糜烂为共同特点的遗传性皮肤病。目前该病可分为4型，即单纯型、交界型、营养不良型和Kindler综合征型。诊断方面，提倡“洋葱皮诊断方法”，即先进行免疫荧光定位，而后针对性进行基因检测明确致病基因位点。治疗上要加强护理，药物、手术对症治疗可缓解不适症状。细胞、蛋白、基因治疗等方面研究不断深入有望为患者带来希望，及时进行产前诊断，避免不良后果的发生。

Inherited epidermolysis bullosa （EB） is a group of hereditary skin diseases characterized by increases in skin brittleness and being prone to skin blisters or erosions when the skin is exposed to slight friction or injury. At present, it is classified into four types, namely EB simplex, junctional EB, dystrophic EB and Kindler syndrome. An ＆quot;onion skinning＆quot; approach is recommended for the diagnosis of inherited epedermolysis bullosa, in which, immunofluorescence mapping is performed firstly, and causative genetic loci are then determined through detection of relevant genes. In its treatment, skin care should be intensified, and medical or surgical treatment may be used to alleviate symptoms. Further development of cell？, protein？and gene？based therapies is expected to bring hope to patients via realization of timely prenatal diagnosis and avoidance of adverse consequences.