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)

A case of dyskeratosis congenita in a 10-year-old white boy is reported. The triad of oral leukoplakia, nail dystrophy, and skin pigmentation was present. Other associated anomalies included dysphagia and varied immunoglobulin levels, although there was no evidence of anemia, pancytopenia, and ocular involvement. Since it may be associated with future malignant change, dyskeratosis congenita should be considered in all cases in which an obscure white lesion exists in the mouth.
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PMID:Dyskeratosis congenita: report of a case and review of the literature. 328 58

Although esophageal strictures with attendant malignant degeneration are well known sequelae of caustic ingestion, fixed pharyngeal structural lesions and development of oral leukoplakia are not well appreciated consequences of such ingestion. We present a patient 12 yr after lye ingestion who displayed rapidly progressive dysphagia suggestive of esophageal carcinoma. Instead, adhesions bisecting the cricopharyngeal inlet and an upper esophageal stricture were found endoscopically. In addition, an area of hypopharyngeal leukoplakia with marked acanthosis, parakeratosis, and dysplasia was noted and resected. The management of this patient's dysphagia and subsequent follow-up for his potentially precancerous oral lesion form the basis of this report.
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PMID:Caustic cicatrization of the pharynx associated with dysphagia and premalignant mucosal changes. 706 65

We report on an 11 year-old boy with dyskeratosis congenita who presented with dystrophic nails, dysphagia, hyperpigmentation and oral leukoplakia. He had a brother who died 14 years earlier with similar presenting symptoms and aplastic anaemia. Genetic studies of our patient demonstrated the presence of a DKC1 mutation and confirmed our diagnosis. Further genetic screening revealed that his mother and one of his four sisters are heterozygous for the same mutation.
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PMID:A rare X-linked inherited mucocutaneous syndrome in two siblings. 2095 62

Oral leukoplakia is a relatively common, painless disorder of the oral mucosa. It predominantly affects middle-aged to elderly men and has a strong association with tobacco smoking and alcohol intake. Concomitant histological findings of hyperorthokeratosis and a well-developed granular cell layer, termed orthokeratotic dysplasia, are often associated with oral squamous cell carcinoma. In contrast, analogous lesions within the esophagus, termed esophageal epidermoid metaplasia, are rarely encountered and poorly described in the literature. To better characterize the clinicopathological features of this entity, we have collected 25 cases from 18 patients. Patients ranged in age from 37 to 81 years (mean, 61.5 years), with a slight female predominance (10/18, 56%). On presentation, a majority of patients complained of dysphagia (10/18, 56%). Past medical history was significant for tobacco smoking or long history of second-hand smoke in 11 (61%) patients and alcohol intake in 7 (39%) patients. Seventeen (94%) patients with esophageal epidermoid metaplasia were located within the middle-to-distal esophagus. Histologically, all cases were sharply demarcated and characterized by epithelial hyperplasia, a thickened basal layer, acanthotic midzone, a prominent granular cell layer, and superficial hyperorthokeratosis. Adjacent high-grade squamous dysplasia and/or squamous cell carcinoma were seen in 3 out of 18 (17%) patients. Follow-up information was available for 13 out of 18 (72%) patients and ranged from 2 to 8.3 years (mean, 2.3 years). Seven of the 13 (54%) patients had persistent disease; however, none of them developed squamous dysplasia or squamous cell carcinoma. In an effort to assess the incidence of esophageal epidermoid metaplasia, 198 consecutive esophageal biopsies were prospectively surveyed over a 6-month period at three academic institutions. No cases were identified within this time frame. In summary, esophageal epidermoid metaplasia is a rare condition affecting the middle-to-distal esophagus in middle-aged to elderly females. The occurrence of adjacent high-grade squamous dysplasia and/or squamous cell carcinoma warrants close follow-up.
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PMID:Esophageal leukoplakia or epidermoid metaplasia: a clinicopathological study of 18 patients. 2376 46