Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0000737 (abdominal pain)
 31,184 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 67-year-old man with von Recklinghausen disease (VRD) was found to have an ill-defined large mass in the ileocecal area on abdominal computed tomography when he was examined for abdominal pain in the right lower quadrant. Because of high serum C-reactive protein level and leukocytosis appendiceal tumor complicated by appendicitis was diagnosed. Due to the possibility of malignancy, standard cancer surgery was carried out to remove the mass, i.e., ileocecal resection together with dissection of the regional lymph nodes. The cecum was displaced by a remarkably enlarged appendix with a firm and thickened wall. The distal portion of the appendix was cystically dilated, forming an abscess. The pathological diagnosis was neurofibromatosis with mucus hyperplasia and abscess formation in the appendix. Neurofibroma of the appendix is very rare, even in patients with VRD. Although it is benign, prompt resection is recommended because of a high risk of appendicitis and malignant transformation.
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PMID:A case of neurofibroma of the appendix in von Recklinghausen disease. 2121 96

A 62-year-old female with neurofibromatosis type 1 (NF1; also von Recklinghausen's disease) was diagnosed with a giant, thick-walled tubular mass, mainly located in the right abdominal area on computed tomography, following an examination for intermittent abdominal pain and increasing abdominal distension. According to the clinical manifestations and imaging features, the giant tubular mass was considered most likely to be a dilated fallopian tube associated with infection, while the possibility of obstructed bowel loops was excluded. However, the subsequent laparotomy revealed a giant appendix, caused by a large neurofibroma in the root region of the appendix, which occluded the lumen. Neurofibroma of the appendix is extremely rare, even in patients with NF1. To the best of our knowledge, only three such cases have previously been reported in the English literature to date.
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PMID:Giant appendiceal neurofibroma in von Recklinghausen's disease: A case report and literature review. 2529 78

Neurofibroma is an uncommon benign tumour of neural tissue origin rarely presenting in the mouth and jaws and thereby attracting the attention of oral physicians. A 22-year-old male patient reported with a complaint of swelling in left middle one third region of face since 8-10 y which was slowly progressive in size. He had history of multiple dark brown pigmentation on skin associated with progressively enlarging multiple small nodular growths over the body and single firm nodular growth in left side of maxilla intraorally. He had history of tuberculosis at the age of one year which was treated completely and since last 2-3 y he was suffering from recurrent episodes of sore throat, fever, diarrhea, abdominal pain with vomiting and excessive weight loss. Radiographic findings showed irregular osteolytic lesions involving ramus and angle of mandible, zygomatic bone and posterior part of maxilla with displacement of teeth with abnormal soft tissue enhancement observed by advance imaging. On serological investigation he was HIV positive and histopathologically, diagnosed with Neurofibromatosis-1. Oral manifestations of neurofibromatosis have been reported in only 4% to 7% of affected persons. This article presents a rarest of rare case report of neurofibromatosis-I in HIV positive individual also involving maxilla, mandible as well as zygomatic arch.
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PMID:A Rare Case Report of Neurofibromatosis I in HIV Positive Individual. 2602 57