Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Epidermolysis bullosa is a rare hereditary mechanobullous skin disorder. Four patients with esophageal involvement are reported. These cases and review of reported cases of epidermolysis bullosa dystrophica-recessive (EBD-R) showed distinct clinical and roentgenographie features of esophageal involvement: diffuse inflammatory changes, motility disorders, small blisters or bullae seen as constant nodular-filling defects, esophageal ulcers, scars, pseudodiverticula, transverse and circumferential webs, various size strictures, shortening of the esophagus with development of traction hiatal hernia and gastroesophageal reflux, perforation, and complete obstruction of the esophageal lumen. Dysphagia is reversible when caused by bullae or webs and permanent when due to cicatrizing strictures. The strictures may remain unchanged in size for many years despite variations in dysphagic symptoms.
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PMID:Esophageal involvement in epidermolysis bullosa dystrophica: clinical and roentgenographic manifestations. 685 25

A total of 17 patients, ages 3 weeks to 14 1/2 years, had 20 esophageal strictures develop after repair of esophageal atresia (9 strictures); primary gastroesophageal reflux (3 strictures); Nissen fundoplication (4 strictures); epidermolysis bullosa congenita dystrophica (1 stricture); congenital esophageal stenosis (2 strictures); or colonic interposition (1 stricture). These strictures were treated with 132 endoscopic balloon catheter dilations (average, 6.6/patient, range, 1 to 24) during a period of 42 months (average, 8 months; range, 2 to 42 months). Fifteen of the 17 patients are now asymptomatic. Thirteen of the 17 patients had documented reflux esophagitis and were also medically treated. The two residually symptomatic patients included a patient with severe proximal esophagitis secondary to epidermolysis bullosa congenita dystrophica who had only a temporary response to dilations and another patient with a tight Nissen fundoplication who did not improve after dilation but is now asymptomatic after corrective surgery. The 10 patients with tracheoesophageal fistula repair were asymptomatic within 3 to 21 months (average, 10.8 months). Only one patient had perforation develop as a result of the procedure. Sixteen of 17 patients had the procedures performed as outpatients. All patients were given oral feedings throughout the course of dilation and had normal growth.
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PMID:Endoscopic balloon dilation of esophageal strictures in children. 849 35

Dysphagia is not infrequent in patients with connective tissue diseases such as scleroderma, polymyositis or systemic lupus erythematosus (SLE). It is usually the result of gastro-oesophageal reflux but dysmotility can equally be responsible. A case of dysphagia is described in a patient with SLE, who had developed a rare variety of bullous mucous disease affecting the whole length of oesophagus with spontaneous extrusion of an oesophageal cast. Histological features were suggestive of a variant of rare form of bullous disease in SLE called epidermolysis bullosa acquisita (EBA). This rare association of SLE and EBA involving the oesophagus has not been described in the literature.
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PMID:Dysphagia in a patient with lupus and review of the literature. 1287 55