Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pseudomelanosis of the duodenum is rare. Only 17 cases have been documented in the world literature. A 59-year-old man presented to Bankstown Hospital, New South Wales with dysphagia. On endoscopy, he was found to have melanosis of the duodenum in addition to oesophageal ulceration. It has been previously suggested that the pigment ferrous sulphide is derived from gastro-intestinal bleeding and lodged in the macrophages. A detailed examination of the pigment, including X-ray probe micro-analysis at various levels of the intestinal epithelium as well as in macrophages is presented.
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PMID:Pseudomelanosis duodeni: a case report with electron-probe X-ray analysis. 170 Aug 52

Gastrointestinal stromal tumors (GIST) are the most common mesenchymatous neoplasms of the human digestive tract. They locate preferentially in stomach, duodenum or small bowel. Usually sporadic, familial cases unrelated to neurofibromatosis may be due to germline mutations in KIT or PDGFRA. We describe the first Argentine family with GIST in which we found, diffuse cutaneous melanosis, lentiginosis, and dysphagia. Dysphagia was not observed in the four families previously described with the same mutation. Histopathology resulted consistent with GIST, and tumor immunohistochemistry was likewise positive for DOG-1, CD117 (KIT) and CD34. The search for germline mutations identified the KIT c.1697T > C (p.559V > A) substitution in exon 11. Treatment with imatinib is furnishing positive results.
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PMID:Dysphagia, melanosis, gastrointestinal stromal tumors and a germinal mutation of the KIT gene in an Argentine family. 2484 23

Primary malignant melanoma of the oesophagus is a rare and aggressive malignancy. This tumour entity accounts for 0.1-0.2% of all oesophageal malignancies and risk factors are yet to be established, although melanosis of the oesophagus may reflect its precursor form. Dysphagia is the commonest symptom. On gastroscopy, it appears as an elevated pigmented mass with satellite lesions in some cases. Unfortunately, most patients present late with metastatic disease. The prognosis is poor with a mean survival time post-operatively of 10-14 months and a 5-year survival rate of 4.5%. Although adjuvant therapy offers some loco-regional control, complete surgical resection offers the best hope for survival.
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PMID:Primary malignant melanoma of the oesophagus: two case reports. 2487 70