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

We describe a pediatric patient with dyskeratosis congenita, whose symptoms included abdominal pain, vomiting, dysphagia, and hematochezia. Gastrointestinal symptom are prominent in this rare genetic disorder.
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PMID:Gastrointestinal problems in a child with dyskeratosis congenita. 865 Nov 92

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