Michalak Agata, Cichoż-Lach Halina, Prozorow-Król Beata, Buk Leszek, Dzida Monika
Department of Gastroenterology with Endoscopy Unit, Medical University of Lublin, Jaczewski Str, Lublin, 820-954, Poland.
Department of Radiology and Nuclear Medicine, Medical University of Lublin, Jaczewski Str, Lublin, 820-954, Poland.
BMC Gastroenterol. 2018 Apr 13;18(1):47. doi: 10.1186/s12876-018-0771-5.
Epidermolysis bullosa (EB) constitutes a heterogenous group of rare multisystem genetically transmitted disorders comprising several blistering muco-cutaneous diseases with a monogenic basis and either autosomal dominant or autosomal recessive mode of inheritance. EB manifestation is not only limited to the skin. Systemic signs might involve the nose, ear, eye, genitourinary tract and upper gastrointestinal tract. The presence of particular symptoms is directly determined by a type of altered skin protein. Gastrointestinal manifestation of EB is most commonly reflected by esophageal stenosis due to recurrent esophageal blistering, followed by consequent scarring.
Here we present a case of a man with dystrophic EB and dysphagia, skin blistering, joints contractures and missing nails. To our knowledge, the presented man is the oldest one diagnosed with EB living in Poland.
Management of an esophageal stricture in such circumstances is based on endoscopic dilatation. However, in most severe cases, placement of a gastrostomy tube is required. Despite great advances in medicine, a targeted therapy in the course of EB has not been established yet.
大疱性表皮松解症（EB）是一组异质性罕见的多系统遗传性疾病，包括几种具有单基因基础且呈常染色体显性或常染色体隐性遗传模式的水疱性皮肤黏膜疾病。EB的表现不仅局限于皮肤。全身症状可能累及鼻、耳、眼、泌尿生殖道和上消化道。特定症状的出现直接由一种改变的皮肤蛋白类型决定。EB的胃肠道表现最常见的是反复食管水疱形成导致食管狭窄，继而形成瘢痕。
我们在此报告一例患有营养不良性EB且有吞咽困难、皮肤水疱、关节挛缩和指甲缺失的男性病例。据我们所知，该男性是波兰确诊的年龄最大的EB患者。
在这种情况下，食管狭窄的治疗基于内镜扩张。然而，在大多数严重病例中，需要放置胃造瘘管。尽管医学取得了巨大进展，但针对EB病程的靶向治疗尚未确立。
