Marsden R A, Gowar F J, MacDonald A F, Main R A
Thorax. 1974 May;29(3):287-95. doi: 10.1136/thx.29.3.287.
, , 287-295. Four members of a family are described with epidermolysis bullosa dystrophica of probable autosomal recessive inheritance. They have shown the typical blistering of the skin and oral mucosa, usually present at birth, which occurs in this uncommon condition. Lesions occur after minor injury and heal slowly with scarring. Abnormalities of the nails and teeth are also present. Oesophageal mucosal involvement can be a serious feature of this type of epidermolysis bullosa and usually manifests clinically as dysphagia and regurgitation of food and blood; oesophageal stenosis may ensue. Dysphagia was present in all four patients described in this study and regurgitation of an oesophageal cast occurred in one. Severe oesophageal stenosis occurred in two patients and minor narrowing and irregularity was present in the others. Treatment by oesophagoscopy and bouginage was carried out in the two patients with stenosis with some relief of dysphagia. Oesophageal webs have rarely been reported in epidermolysis bullosa. In all four of our patients a postcricoid web was found. The presence of a smooth tongue in four patients and anaemia in two suggests the co-existence of the Paterson-Brown Kelly syndrome, although alternatively these webs may have resulted from the blistering and scarring process of epidermolysis bullosa.
描述了一个家族的四名成员患有可能为常染色体隐性遗传的营养不良性大疱性表皮松解症。他们表现出典型的皮肤和口腔黏膜水疱，通常在出生时就存在，这种情况在这种罕见病症中会出现。损伤后会出现病变，愈合缓慢并形成瘢痕。指甲和牙齿也有异常。食管黏膜受累可能是这种类型大疱性表皮松解症的一个严重特征，临床上通常表现为吞咽困难以及食物和血液反流；可能会继而出现食管狭窄。本研究中描述的所有四名患者均存在吞咽困难，其中一名患者出现食管管型反流。两名患者发生了严重的食管狭窄，其他患者存在轻度狭窄和不规则情况。对两名狭窄患者进行了食管镜检查和探条扩张治疗，吞咽困难有所缓解。大疱性表皮松解症中很少报道食管蹼。在我们所有四名患者中均发现了环状软骨后蹼。四名患者出现光滑舌，两名患者出现贫血，提示可能同时存在帕特森 - 布朗 - 凯利综合征，尽管这些蹼也可能是由大疱性表皮松解症的水疱和瘢痕形成过程导致的。
