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)

Oesophageal involvement in epidermolysis bullosa is discussed. Two patients, a brother and sister, with stricture of the oesophagus due to the disease are described. The strictures were treated by resection and end-to-end oesophageal anastomosis and the patients have been relieved of dysphagia for the subsequent three years.
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PMID:Oesophageal reconstruction for complete stenosis due to dystrophic epidermolysis bullosa. 60 31

Two cases of a rare hereditary disease, epidermolysis bullosa, congenital and acquired, are presented. The disease manifests by vesicular eruptions over the skin and mucous membrane of the oropharynx and oesophagus, alternating with sympton-free periods. The recurrent crops of vesicles heal by scarring and progressive stenosis of the pharynx and oesophagus. Although mucosal involvement is a less common and a late manifestation of the disease, it may occur in relatively mild cases and relatively early in the course of the disease. It is important that the radiologist be familiar with the pharyngoesophageal manifestations since the patient may present with dysphagia during an interval free of cutaneous lesions. The barium swallow appearance of stricturing with obstruction is illustrated.
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PMID:Pharyngoesophageal manifestations of epidermolysis bullosa. 62 7

The present paper describes two rare cases of epidermolysis bullosa dystrophica (recessive), one with oesophageal stricture and another with laryngeal stenosis, along with other usual features of the disease. Different views on the line of treatment of the oesophageal stricture as a complication of this dreadful disease are discussed. Replacement of the strictured oesophagus by coloplasty may be contemplated in the first case, if the patient develops increasing dysphagia. In the second case, with cicatrical stenosis of the larynx and hoarseness of voice which is a rare complication of the disease, not reported in the literature so far, a tracheostomy is contemplated when the child develops acute respiratory distress. These two cases are under observation.
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PMID:Epidermolysis bullosa and its E.N.T. manifestations. Two case reports. 65 75

A 24-year-old woman had epidermolysis bullosa simplex involving the external ear canal with resultant stricture that led to conductive hearing loss and repeated episodes of external otitis. Treatment consisted of scar excision, bony canal enlargement, and split-thickness skin grafting. A four-year follow-up has demonstrated no recurrence of disease. Mechanobullous diseases are characterized by blistering of the skin and mucous membrane following frictional trauma. In addition, the external ear may be deformed. Intraoral scarring may result in limitation of the mouth's opening. Dysphagia may occur secondarily to esophageal scarring. Endotracheal tubation may result in postoperative blisters necessitating tracheostomy. Even surgical scrubbing and use of skin tape may lead to blister formation. The otolaryngologist should be aware of the numerous problems these patients present.
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PMID:External auditory canal stricture secondary to epidermolysis bullosa. 83

Stenotic lesions of the esophagus in epidermolysis bullosa are a rare cause of dysphagia. Even though 50 cases have been reported in the literature, only recently has surgical treatment been suggested for these patients. In our patients, who had an annular stenosis just distal to the pharyngoesophageal juncture, resection of a mucosal cylindrical segment with reanastomosis through a longitudinal esophageal myotomy was successful. This method of treatment is suggested for patients in whom the stenosis is localized.
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PMID:Radical surgical treatment of esophageal stenosis due to epidermolysis bullosa. 112 77

The mouth, oesophagus, and anus are often involved in dystrophic and junctional epidermolysis bullosa, but the frequency is unknown. Among 246 patients with epidermolysis bullosa, dysphagia developed in 76% of those with recessive dystrophic, in 20% of those with dominant dystrophic, in 15% of those with junctional, and in 2% of those with simplex forms. Lingual adhesions or microstomia occurred in dystrophic epidermolysis bullosa only, but were eight times more common in recessive than in dominant subtypes. These lesions are provoked by the trauma of eating and further reduce food intake, which exacerbates constipation caused by anal blisters and results in malnutrition. Management requires specialised multidisciplinary care.
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PMID:Oral and gastrointestinal manifestations of epidermolysis bullosa. 136

Epidermolysis bullosa acquisita (EBA) is a well-defined, blistering disorder of the skin associated with autoantibodies to type VII collagen. Although esophageal pathology is common in children with hereditary dystrophic forms of epidermolysis bullosa, esophageal problems have not been reported previously in patients with bona fide EBA. In this report, a 71-yr-old white female with longstanding EBA presented with recurrent dysphagia and multiple esophageal webs that responded to esophageal dilatation.
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PMID:Epidermolysis bullosa acquisita (EBA) and esophageal webs: a new association. 192 49

Epidermolysis bullosa acquisita (EBA) is a well-characterized, subepidermal blistering disorder associated with autoimmunity to type VII collagen, which is the collagen localized to anchoring fibrils within the dermoepidermal junction of skin. Although the full clinical spectrum of EBA is still being defined, it is known that the clinical features of EBA may be reminiscent of hereditary dystrophic epidermolysis bullosa, a scarring blistering disease of children that is commonly associated with esophageal stenosis. We describe a patient with EBA who had both an acral-predominant mechanobullous disease akin to dystrophic epidermolysis bullosa and an inflammatory, widespread bullous eruption reminiscent of bullous pemphigoid in association with esophageal webs and dysphagia. Although esophageal involvement is common in dystrophic epidermolysis bullosa, a review of the literature shows that this is the first bonafide case of EBA with symptomatic esophageal disease.
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PMID:Epidermolysis bullosa acquisita and associated symptomatic esophageal webs. 199 68

Seven patients with epidermolysis bullosa dystrophica and chronic and recurrent oesophageal lesions such as spasm, strictures, and complete occlusion were studied. Dysphagia could be cured with drugs if it was caused by bullae formation or spasm. If oesophageal strictures were present, endoscopy and bouginage with corticosteroid prophylaxis during the quiescent phase of the disease was a safe and useful procedure. We have also given corticosteroids, which reduced the oedema caused by bullae formation and oral phenytoin, which reduced epithelial detachment by inhibiting collagenase activity. Verapamil counteracted oesophageal spasm and pureed food during periods of dysphagia reduced blistering of the upper oesophagus.
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PMID:Management of oesophageal stenosis in epidermolysis bullosa dystrophica. 275 29

We are presenting a young man with Epidermolysis Bullosa (Dystrophica recessive type) who had lesions in hands, feet and face; some plaques of alopecia were noted on the scalp. Three years ago the patient showed marked dysphagia due to some esophagus erosions, which have been appearing regularly. One year ago it was necessary to take the patient to the Hospital where a esophagectomy was performed replacing the esophagus by a piece of colon.
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PMID:[Recessive dystrophic epidermolysis bullosa (with esophageal involvement)]. 352 33


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