a case of kindler syndrome presenting with dysphagia
نویسندگان
چکیده
kindler syndrome is a rare hereditary disorder that predominantly involves the skin and mucous membrane. acral skin blistering, progressive photosensivity, skin atrophy and poikiloderma that begin from infancy and childhood are considered to be characteristic manifestations. urethral, anal, esophageal, mouth and laryngeal mucosa may be involved in this syndrome, thus periodontitis and gingival involvement, anal, esophageal or urethral strictures may be present in this disease. although gastrointestinal tract involvement in patients with kindler syndrome is possible, it is rare in the literature. we report the case of a 34-year-old male with kindler syndrome who had referred with dysphagia. upper gastrointestinal endoscopy revealed an esophageal web in the upper third of the esophagus. endoscopic dilatation of the esophageal web was performed by using a mechanical dilating bougie.two months after esophageal dilatation we found significant improvement in the patient's dysphagia according to the validated mayo dysphagia questionnaire (mdq).
منابع مشابه
Kindler Syndrome: A case Report from Iran
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Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical feat...
متن کاملkindler syndrome: a case report from iran
kindler syndrome (ks) is a rare, autosomal recessive genodermatosis characterized by skin blistering and photosensitivity in infancy, progressive poikiloderma, and diffuse cutaneous atrophy. it affects the skin, mucous membranes, and oral cavity and is caused by mutations in the kind1 gene on 20p12.3. the first case of ks associated with periodontitis was reported in 1996, and have been infrequ...
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گوارشجلد ۱۸، شماره ۲، صفحات ۱۳۲-۰
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