Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 9-year-old girl who experienced recurrent dysphagia since infancy. Crohn's disease was suspected because she had aphthous ulcers of the mouth and anal dermatitis with hematochezia. After bougienages of esophageal stenoses and medication for inflammatory bowel disease proved unsuccessful, interdisciplinary re-examination revealed the cause of the symptoms to be an extracutaneous form of dystrophic epidermolysis bullosa, a genetic skin fragility disorder. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, a protein of the epidermal attachment complex, and typically manifests with trauma-induced skin blistering, scarring, nail dystrophy, and, in some cases, mucosal involvement. The present proband never developed skin blisters but had nail dystrophy and erosions of the oral, esophageal, and genitoanal mucosa, which healed with slight scarring. Mutation analysis disclosed compound heterozygosity for recessive mutations in the COL7A1 gene. The paternal mutation 425 A-->G caused abnormal splicing resulting in a premature stop codon. The maternal mutation G2775S led to the substitution of a glycine by a serine in the triple helical domain of collagen VII. This case shows that mucosal disease and esophageal strictures in childhood are not always acquired, but can also represent a genetic defect of dermal-epidermal adhesion, even in the absence of skin blistering.
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PMID:Esophageal stenosis in childhood: dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations. 1178 Dec 96

Epidermolysis bullosa dystrophica is a hereditary blistering disorder in which the mucosal surface of the esophagus is frequently involved in addition to skin. Blister formation after minor trauma leads to erosions, ulcerations, scarring, and stricture formation in the esophagus and causes dysphagia. There is no definitive medical management for esophageal lesions. Colonic interposition has considerable mortality and morbidity, while surgical or endoscopic bougienage is not recommended because it causes further trauma to the esophagus, which accelerates stricture formation, and has a high risk of perforation. Herein we report a case of esophageal stricture successfully treated with repeated balloon dilatations.
Dysphagia 2002
PMID:Fluoroscopically guided endoluminal balloon dilatation of esophageal stricture due to epidermolysis bullosa dystrophica. 1214 Jun 54

Dystrophic epidermolysis bullosa is an inherited disorder with frequent oesophageal stricture formation. There is no satisfactory medical treatment of dysphagia however; endoluminal balloon dilation is a novel method with satisfactory results. Intrafamilial cases of dystrophic epidermolysis bullosa manifest variable clinical presentations. We report two sisters with dystrophic epidermolysis bullosa simultaneously presenting with dysphagia. Fluoroscopically guided endoscopic balloon dilation revealed almost complete resolution of dysphagia in both patients. Our cases represented a striking similarity in their clinical picture and response to treatment. Balloon dilation in these cases is a safe and effective approach.
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PMID:Fluoroscopically guided endoluminal balloon dilation of oesophageal stricture due to dystrophic epidermolysis bullosa in two sisters. 1716 33