1/14. Perianal disease of tuberculous origin: report of a case and review of the literature.PURPOSE: A case of anal tuberculosis in an otherwise asymptomatic patient with bleeding anal ulcers is presented. The clinical features of this entity and the problems in differential diagnosis between anal infectious vs. inflammatory diseases are discussed. methods: The management and outcome of the case of an adult patient who presented with perianal ulcers is described. RESULTS: On a three-drug antituberculous regimen, symptoms abated, radiographic infiltrates improved, and perianal ulcers healed. CONCLUSION: Anal tuberculosis is an extremely rare disease. A tuberculous origin must be considered when the cause of perianal ulcers is unclear to avoid undesirable delays in the diagnosis and treatment of this disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/14. Chronic recurrent multifocal osteomyelitis associated with chronic inflammatory bowel disease in children.Chronic recurrent multifocal osteomyelitis (CRMO) is a rare disease of children characterized by aseptic inflammation of the long bones and clavicles. No infectious etiology has been identified, and CRMO has been associated with a number of autoimmune diseases (including Wegener's granulomatosis and psoriasis). The relationship between CRMO and inflammatory bowel disease is poorly described. Through an internet bulletin board subscribed to by 500 pediatric gastroenterologists, we identified six inflammatory bowel disease patients (two with ulcerative colitis, four with Crohn's colitis) with confirmed CRMO. In all cases, onset of the bony lesions preceded the onset of bowel symptoms by as much as five years. Immunosuppressive therapy for the bowel disease generally resulted in improvement of the bone inflammation. Chronic recurrent multifocal osteomyelitis should be considered in any inflammatory bowel disease patient with unexplained bone pain or areas of uptake on bone scan. CRMO may be a rare extraintestinal manifestation of inflammatory bowel disease; alternatively, certain individuals may be genetically predisposed to the development of both diseases.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/14. Colonic tuberculosis mimicking Crohn's disease: case report.BACKGROUND: Intestinal tuberculosis is a rare disease in western countries, affecting mainly immigrants and immunocompromised patients. Intestinal tuberculosis is a diagnostic challenge, especially when active pulmonary infection is absent. It may mimic many other abdominal diseases. CASE PRESENTATION: Here, we report a case of isolated colonic tuberculosis where the initial diagnostic workup was suggestive of Crohn's disease. Computed tomography findings however, raised the possibility of colonic tuberculosis and the detection of acid-fast bacilli in biopsy specimens confirmed the diagnosis. CONCLUSIONS: In conclusion, this case highlights the need for awareness of intestinal tuberculosis in the differential diagnosis of chronic intestinal disease- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/14. Anti-glomerular basement membrane nephritis and bullous pemphigoid caused by distinct anti-alpha 3(IV)NC1 and anti-BP180 antibodies in a patient with Crohn's disease.BACKGROUND: Anti-glomerular basement membrane (GBM) nephritis is a rare disease induced by antibodies directed against alpha3(IV)NC1, the Goodpasture antigen. We report a patient with Crohn's disease who developed anti-GBM nephritis and the skin blistering disorder bullous pemphigoid, owing to distinct autoantibodies. methods: frozen sections of skin and kidney biopsies were incubated with antisera specific for human IgG, IgA, IgM, fibrin, and C3. Reactivity of the patient's serum with GBM antigens was studied by Western blot using bovine solubilized type IV collagen and by enzyme-linked immunosorbent assays using alpha1(IV), alpha3(IV), and alpha5(IV)NC1 recombinant proteins. Reactivity studies against skin antigens were done by Western blot using human keratinocyte and dermal extracts and three recombinant forms of the bullous pemphigoid antigen180 (BP180, also called BPAG2 or type XVII collagen). The patient's serum was affinity fractionated on a (IV)NC1 column, and the bound and unbound fractions were analyzed for their reactivity against GBM and skin antigens. RESULTS: The patient had deposits of IgG along the GBM and the epidermal basement membrane zone. Circulating IgG antibodies against alpha3(IV)NC1 were detected. The patient's autoantibodies immunoblotted the intracellular domain but not the extracellular domain of BP180. Reactivity of the patient's IgG with BP180 was found only in the unbound fraction of the serum. CONCLUSION: The simultaneous development of a rare renal and skin autoimmune disorder, resulting from non-cross-reactive autoantibodies, suggests that a common triggering event could be responsible for the autoimmune injury.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/14. Tuberculous involvement of the oesophagus with oesophagobroncheal fistula.Tuberculous involvement of the oesophagus is a rare disease. Even if it is suspected, diagnosis is often difficult though dysphagia and chest pain are the most common symptoms without any other specific signs of tuberculosis. The diagnosis is based on oesophagography, oesophagoscopy, bronchoscopy, and computed tomographic scan. Suspected tuberculosis can be confirmed with histology, smear, and culture. The two most common differential diagnoses are Crohn's disease and carcinoma. The case is reported of a female patient with tuberculous involvement of the oesophagus, who developed an oesophagobroncheal fistula during steroid treatment started for suspicion of Crohn's disease. The patient was immunocompromised due to treatment with azathioprine that she was receiving for multiple sclerosis. The fistula was successfully treated by antituberculous chemotherapy alone.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/14. Parastomal pyoderma gangrenosum: a case report and literature review.Parastomal pyoderma gangrenosum (PPG) is an exceedingly rare disease process most often observed in inflammatory bowel disease patients with an ileostomy. Fewer than 50 cases have been reported in the medical literature. The incidence is 0.6 per cent of patients with ileostomy and inflammatory bowel disease. The rarity of the disease leads to misdiagnosis and mistreatment of the lesion. The intense pain and disruption of ostomy function greatly impair affected individuals beyond the limit of their underlying disease. Current best care practices observed in small study series indicate long-term intensive medical therapy aimed at systemic disease suppression to optimize PPG wound healing. Our patient had no signs of active crohn disease at the time of PPG presentation. She was initially treated with minimal wound debridement and intralesional triamcinolone. Finally under the care of an enterostomal/wound care therapist the patient achieved excellent PPG resolution in 6 months.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/14. association of Takayasu's arteritis and Crohn's disease. Results of a study on 44 Takayasu patients and review of the literature.Takayasu's arteritis and Crohn's colitis are exceptionally associated and characteristics of patients affected with both diseases have not been fully described. In a group of 44 consecutive Takayasu patients, 4 also had Crohn's disease. This 9% prevalence (95% confidence interval=2.5-21.7%) of Crohn's disease in the group is significantly greater than the highest reported prevalence of the disease in the general population. In these 4 patients, fulfilling 5 or more ACR criteria for Takayasu's disease, Crohn's disease was confirmed with colonoscopic examination and biopsies. Takayasu-Crohn patients were younger at diagnosis and tended to have systemic symptoms more frequently. Other clinical, radiological and biological characteristics were not different between the 2 groups. In the literature, 16 cases of this unusual association have been reported. The diagnosis of Takayasu's disease was simultaneous or posterior to Crohn's disease in 87%. Data on vascular lesions was available in 6 out of 16 patients and in the 4 patients of the present study: the distribution of vascular lesions in Takayasu-Crohn patients did not appear to be different from Takayasu patients. Our results and previous reports suggest that this association of rare diseases is not fortuitous. With respect to the indolent course of Takayasu's arteritis, early diagnosis of vascular lesions in Crohn patients is encouraged.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/14. Eosinophilic enteritis presenting as acute abdomen: US features of two cases.Eosinophilic enteritis is a rare disease which may mimic acute abdominal emergency. Two sonographically documented cases are presented, which were subsequently proven at operation. Although the sonographic features of severe echolucent bowel wall thickening were not specific, combination with clinical and laboratory data may suggest the correct diagnosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/14. Small bowel adenocarcinoma in Crohn's disease: a case report and review of literature.Small bowel adenocarcinomas are remarkable for their rarity, difficult diagnosis and poor prognosis. Here we report an unusual case of a 33-year-old patient in whom infiltrative adenocarcinoma of the small bowel was diagnosed after a 10-year history of Crohn's disease. In most previously reported cases, detection of Crohn's disease was subsequent to that of carcinoma of the small bowel or the patients involved had an even longer history of the disease. Our literature review suggests that the risk of small bowel adenocarcinoma is higher in patients with Crohn's disease than in the overall population. We present details on epidemiology as well as clinical and diagnostic aspects of this rare disease entity.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/14. Esophageal stricture in Crohn's disease--a case report.We treated a 46-year-old Japanese man with Crohn's disease of the esophagus and for whom medical therapy was adequate. Crohn's disease of the esophagus is a rare disease without specific clinical features and establishment of the diagnosis with guided biopsy is extremely difficult. Therefore, Crohn's disease of the esophagus should be considered in the differential diagnosis of biopsy-negative carcinoma of the esophagus in order to avoid major surgery. Treatment of Crohn's disease of the esophagus should primarily be medical and esophagectomy should only be considered in cases of complications, intractability or a suspicion of malignancy in the biopsied specimen.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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