1/8. IgE multiple myeloma.IgE multiple myeloma is a rare disease characterized by a high frequency of Bence-Jones proteinuria and plasma cell leukaemia when compared to other isotypes of monoclonal proteins. Only 35 cases have been reported. We describe a 70-year-old woman with a stage III IgE kappa multiple myeloma presenting with a sacral plasmacytoma. Immunological and biochemical studies showed IgE kappa producing tumoral plasma cells. serum total IgE was high without clinical symptoms suggesting an hyperIgE syndrome or mast cell activation. The patient underwent surgical removal of the sacral tumor and monthly melphalan-prednisone treatment together with intravenous pamidronate infusions. magnetic resonance imaging (MRI) of the dorsolumbar spine revealed an epidural process leading to T6-T9 radiotherapy. Bone densitometry showed a decreased bone mineral content supporting the management of myeloma-related osteoporosis with bisphosphonate infusions. A good partial response with plateau-phase and increase of bone mineral content was achieved after 1 year of treatment and still persists after a 28 months follow-up.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/8. Aggressive multiple myeloma presenting as mesenteric panniculitis.Mesenteric panniculitis is a rare disease of the bowel mesentery, characterized by tumor-like infiltration by chronic inflammatory cells, fat necrosis, and fibrosis. Reported cases cited clinical presentation ranging from abdominal pain to fever of unknown origin, the majority of which were idiopathic and associated with a benign prognosis. We report the case of a 43-yr-old male who presented with malaise, weight loss, microcytic anemia, and a high erythrocyte sedimentation rate. Radiographic and histological investigations revealed typical features of mesenteric panniculitis. Initial treatment with high-dose oral prednisolone led to rapid and complete resolution of symptomatology, radiographic, and laboratory anomalies. Within 6 months, the patient presented again with anemia, renal failure, and hypercalcemia. A diagnosis of IgA kappa chain myeloma was made. Despite chemotherapy and restoration of normocalcemia, he died from refractory pulmonary edema. This is the first report of a hematological malignancy initially presenting with features of mesenteric panniculitis culminating in an aggressive course and a fatal outcome.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/8. IgM myeloma: a report of four cases.IgM myeloma is a rare disease, accounting for approximately 0.5% of multiple myelomas (MM). Here we report four cases of IgM multiple myeloma. Two were diagnosed in advanced clinical stages with multiple osteolytic lesions, leading to hypercalcemia in one patient. Bone marrow morphology showed a variable degree of infiltration with mainly mature plasma cells. An immunophenotypic analysis performed in one case showed expression of CD38 and monoclonal cytoplasmatic immunoglobulin. interphase fluorescence in situ hybridization performed in one case did not reveal any aneuploidies or deletions of the retinoblastoma, P16, or P53 tumor suppressor genes. While one patient with a smoldering IgM myeloma did not need specific therapy, the others received cytotoxic treatment based on standard chemotherapy for MM. The outcomes were one stable disease, one sustained complete remission, and one progressive disease. All four patients were alive 1 year after diagnosis. One died due to progressive disease after 31 months. We conclude that IgM myeloma shares clinical and histological features with other MM rather than with Waldenstrom's macroglobulinemia, which is most commonly diagnosed in cases with IgM monoclonal gammopathy. Since MM and Waldenstrom's macroglobulinemia differ in prognosis and treatment strategies, the two disease entities should be distinguished based on clinical criteria, bone marrow morphology, and immunophenotypic analysis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/8. immunoglobulin d myeloma--problems with diagnosing and staging (own experience and literature review).immunoglobulin d (IgD) myeloma is a rare disease accounting for about 2% of all myelomas. The distinctive features are the predominant occurrence in males and young patients, short survival time, uncertain appearance of M-component in serum electrophoresis, predominance of lambda light chains, frequent renal impairment, hypercalcemia and amyloidosis. The aim of the present study was to show diagnostic difficulties resulting from a variety of non-specific initial symptoms and laboratory findings as well as to compare the staging system proposed by Durie and salmon with the new risk grouping by Shimamoto. Case histories of 7 patients were analyzed retrospectively. Five of them were diagnosed as IgD multiple myeloma (IgD MM), 1 as non-secretory IgD myeloma and 1 as solitary bone IgD plasmocytoma that evolved to an IgD MM. All patients were staged according to the Durie and salmon classification and the new risk grouping by Shimamoto. We report diagnostic problems with IgD myeloma in our patients, with special emphasis on non-specific rheumatoidal and neurological symptoms in 1 case. There was a very good correlation of the Japanese classification with the severity of the disease and the risk of death. In conclusion, the initial symptoms of IgD myeloma can be very misleading. Wide differential diagnosis, including autoimmunological disorders of the connective tissue, is necessary. The new Japanese risk grouping seems to be of greater prognostic significance for IgD myeloma than the Durie and salmon staging system.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/8. Plasma cell leukemia: case report of a rare and aggressive variant of multiple myeloma.Plasma cell leukemia (PCL) is a rare disease and is the least common variant of multiple myeloma accounting for 2-3% of all plasma cell dyscrasias. We report a patient who presented with history of high grade fever, weakness, palpitations, loss of appetite, bone pains and mental confusion for twenty days. Initial evaluation revealed plasmacytosis with blood plasma cell count of 5184/cumm. His hemoglobin (Hb) was 11.3 gm/dl, platelets were 75000/cumm and total leucocyte count (TLC) was 21600/cumm (24% plasma cells). bone marrow examination revealed >60% plasmablasts. serum LDH was high at 3117 U/L and serum calcium was also elevated at 13.9 mg/dl. A diagnosis of PCL was made and the patient was started on treatment for hypercalcaemia with melphalan/prednisolone regime along with supportive care. Patient deteriorated very rapidly despite treatment and died on the eighth day. A detailed report of this case and a review of PCL is presented here.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/8. Non-excretory plasmocytoma--value of imaging procedures.We report a case of a 84-year old patient with a non-excretory plasmocytoma. Lacking pathological laboratory values, first diagnostic hints on this rare disease were provided by imaging procedures. Computed tomography and plain radiography surpassed bone scan with 99mTc-diphosphonate compounds in detecting bone associated lesions. According to data in the literature, magnetic resonance imaging and bone marrow scintigraphy seem to be useful in quantifying bone marrow involvement, whereas computed tomography and plain radiography appear to be good tools in detecting localized cortical or spongious lesions in multiple myeloma.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/8. Disseminated extramedullary plasmacytomas.A 53-year-old man developed multiple, widespread infiltrative tumors of his lips, eyelids, ears, distal fingers and toes, tongue, buccal mucosa, scrotum, and larynx. biopsy results of three involved sites were similar, with dermal infiltration by well-differentiated plasma cells. Bone marrow aspirate and biopsy were essentially normal. The patient responded well to therapy with cyclophosphamide, doxorubicin, vincristine, and prednisone. Extramedullary plasmacytoma is a rare disease that most often arises in the upper respiratory tract. The relationship of this entity to other forms of myelomatosis is discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/8. Acquired cutis laxa associated with multiple myeloma.Acquired cutis laxa, or generalized elastolysis, is a rare disease. One patient was found to have not only cutis laxa but also multiple myeloma.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |