1/7. Primary bilateral mucosa-associated lymphoid tissue lymphoma of the breast with atypical ductal hyperplasia and localized amyloidosis. A case report and review of the literature.Primary non-Hodgkin lymphoma of the breast is a rare disease. Primary mucosa-associated lymphoid tissue lymphoma is even rarer, and bilateral involvement is exceptional. We describe a case of primary bilateral breast mucosa-associated lymphoid tissue lymphoma with bilateral atypical ductal hyperplasia and bilateral localized amyloidosis in a 64-year-old woman with a history of arthritis and systemic lupus erythematosus and its clinical, histologic, and immunohistochemical features. Microscopic examination of the breast lesion showed dense periductal and perilobular small and plasmacytoid lymphocytes with eosinophilic amyloid in the vessels and the stroma. Bilateral single foci of atypical ductal hyperplasia were also noted. Fine needle aspiration showed small and large lymphocytes and plasma cells. Molecular analysis demonstrated a heavy chain immunoglobulin H gene rearrangement. flow cytometry studies showed an abnormal B-cell population. The combined histologic, paraffin immunohistochemistry, flow cytometry, and molecular results were considered diagnostic for low-grade mucosa-associated lymphoid tissue lymphoma. The patient underwent bilateral local breast radiation without other organ or site involvement.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/7. focal nodular hyperplasia of the liver.We present herein two successfully treated cases of focal nodular hyperplasia (FNH) of the liver, a relatively rare disease. Case 1 was a 3 year old child in whom typical FNH developed in the left lateral segment of the liver, whereas Case 2 was a 22 year old man in whom characteristic findings were lacking on preoperative diagnostic imaging. Scintigraphy was not performed in either case, however, postoperative histological examination confirmed FNH. Thus, in patients with a hypervascular tumor and normal liver function, FNH should be strongly suspected and a series of scintigraphy proposed. Both cases showed a negative association with oral contraceptive intake but no other obvious etiology was suggested.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/7. Bilateral atypical ductal hyperplasia, an incidental finding in gynaecomastia--case report and literature review.male breast cancer is a rare disease. Atypical ductal hyperplasia (ADH) in men is much rarer, and bilateral involvement is exceptional. A 20-year-old male presented with bilateral gynaecomastia who underwent subcutaneous mastectomies and histopathology revealed bilateral ADH. At 24 months, completion mastectomies were performed on both sides. The residual breast tissue revealed ADH similar to the initial specimen. ADH in women increases the risk of breast cancer by four to five times. To our knowledge, this is the first case report of bilateral ADH in a gynaecomastia specimen.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/7. Hereditary angio-oedema with mesangiocapillary glomerulonephritis.A patient with hereditary angio-oedema (HAO) developed mesangiocapillary glomerulonephritis (MCGN) under observation. HAO is characterized by an inherited defect of complement-deficiency of C1 esterase. MCGN is often associated with another complement abnormality which leads to depression of serum C3 and there is some evidence that the complement abnormality precedes the nephritis. The coincidence of these two rare diseases in the present patient, and in one previously described, suggests that other complement abnormalities may predispose to the development of MCGN.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/7. Simultaneous occurrence of hepatic adenoma and focal nodular hyperplasia: report of a case and review of the literature.We report the case of a 28-year-old woman with a history of oral contraceptive use and the simultaneous occurrence of histologically proven hepatic adenoma and focal nodular hyperplasia. A review of the literature discloses that the simultaneous occurrence of these hepatic lesions is a rare event. Epidemiologic evidence suggests that hepatic adenomas are etiologically related to oral contraceptive use, whereas focal nodular hyperplasia does not seem to be caused by these agents. The finding of the two lesions in the same liver may represent the chance occurrence of two rare diseases.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/7. A case of primary hyperparathyroidism with hypercalcemic nephropathy in children.Primary hyperparathyroidism is a rare disease in children and is characterized by conspicuous skeletal and renal changes. A 12 year old male patient presented with symptoms of polydipsia, polyuria, general weakness, nausea, and vomiting which had begun 3 months earlier, and showed typical laboratory findings of primary hyperparathyroidism. Confirmatory diagnosis was made by elevated parathyroid hormone concentration in serum, technetium-thallium subtraction scan imaging method and histopathologic finding of chief cell hyperplasia. The laboratory findings revealed elevated levels of BUN, creatinine and decreased GFR. kidney biopsy showed typical calcium deposits in tubules with marked tubulointerstitial infiltration. After subtotal parathyroidectomy, clinical findings improved remarkably.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/7. ileitis hyperplastica follicularis Golden: surgical or conservative treatment?The authors report on four cases of Golden's syndrome, a rare disease with unknown etiology and controversial therapy. The first two 7-year-old boys had gastrointestinal bleeding; their hemoglobin levels were 7.0 g% and 7.3 g%, respectively. A blood transfusion was required. Both patients underwent gastroscopy and rectoscopy, and no source of bleeding was found. Biopsies were taken during laparotomy, after terminal ileotomy in case one and coecotomy in the other. Bowel resection was not necessary in either case. The third and fourth boys (5 and 6 years old, respectively) were treated conservatively with parenteral nutrition; blood transfusion was not necessary. All four patients recovered within several days. Control colonoscopies 6 months later showed normal mucosa. The authors discuss their diagnostic and therapeutical regime, stressing that in their experience, this rare disease does not require surgical intervention.- - - - - - - - - - ranking = 2keywords = rare disease (Clic here for more details about this article) |