Rare case of dysphagia, skin blistering, missing nails in ayoung boy

• 作者: Bharat Bajantri Jasbir Makker Prospere Remy
• 来源期刊: 世界胃肠内镜杂志：英文版（电子版）
• 学科: 医学
• 关键词: Epidermolysis bullosa DYSPHAGIA Esophagealstenosis GASTROSTOMY BLISTERING
• 年，卷（期）: 2015,（2）
• 页码范围: 154-158
• 页数: 5页
• 分类号: R

摘要

Epidermolysis bullosa is a group of genetic disorderswith an autosomal dominant or an autosomal recessivemode of inheritance and more than 300 mutations. Thedisorder is characterized by blistering mucocutaneouslesions and has several varying phenotypes due toanchoring defect between the epidermis and dermis.The variation in phenotypic expression depends on theinvolved structural protein that mediates cell adherencebetween different layers of the skin. Epidermolysisbullosa can also involve extra-cutaneous sites includingeye, nose, ear, upper airway, genitourinary tract andgastrointestinal tract. The most prominent feature ofthe gastrointestinal tract involvement is developmentof esophageal stricture. The stricture results fromrecurrent esophageal mucosal blistering with consequentscarring and most commonly involves theupper esophagus. Here we present a case of a youngboy with dominant subtype of dystrophic epidermolysisbullosa who presented with dysphagia, extensiveskin blistering and missing nails. Management of anesophageal stricture eventually requires dilatation ofthe stricture or placement of a gastrostomy tube tokeep up with the nutritional requirements. Gastrostomytube also provides access for esophageal stricturedilatation in cases where antegrade approach throughthe mouth has failed.