Siblings with Bohring-Opitz syndrome.
We describe a brother and sister with Bohring-Opitz syndrome and suggest that autosomal recessive inheritance may occur in this condition.
Biomedical subjects
Publications and source records attributed to H Hargreaves.
We describe a brother and sister with Bohring-Opitz syndrome and suggest that autosomal recessive inheritance may occur in this condition.
Extramedullary plasmacytoma (EMP), solitary plasmacytoma of bone, and multiple myeloma are related neoplasms, but EMP is clearly a distinct entity. Moreover, there are histologic and clinical similarities between EMP and marginal zone B-cell lymphomas (MZLs) displaying extensive plasma cell differentiation, suggesting a possible histogenetic relationship. The histologic and clinical features of 5 EMPs with extensive plasma cell differentiation were histologically reviewed for features of MZL. The previously diagnosed MZLs, mucosa-associated lymphoid tissue (MALT) type, of 2 patients also were reviewed. All patients were women aged 48 to 79 years. The EMPs originated in the parotid gland, lymph nodes, dura, or small bowel. The initial tumors diagnosed as MALT-type MZL were located in the lung and small bowel. All patients were treated with resection, with or without irradiation therapy. One patient also received systemic chemotherapy. All patients are alive with no evidence of disease. All tumors contained large numbers of plasma cells, constituting between 55% and 90% of the lymphoid cells. Centrocyte-like cells and monocytoid B cells each represented 0% to 25% of the infiltrate. Lymphoepithelial lesions were observed in all of the tumors in sites where epithelium was present. Reactive follicles were found in all of the tumors. EMPs may represent MZLs that have undergone an extensive degree of plasmacytic differentiation.
This report describes two cases of giant lymph node hyperplasia (GLNH) with unusual clinicopathologic features, both studied with immunohistochemical techniques. In the first case, mesenteric GLNH was associated with amyloidosis and the nephrotic syndrome. In the second, GLNH developed in a patient with previously treated Hodgkin's disease. In both cases, the GLNH was of the plasma cell variant. The plasma cells of the first case contained both kappa and lambda light chains, while those in the second case contained only the lambda light chain. The presence or absence of monoclonality was not predictable from the morphology alone. Cases of GLNH with unusual clinicopathologic features are reviewed and the significance of immunohistochemical studies discussed.
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A large, calcified paratracheal mass was identified in a patient with secondary hyperparathyroidism. The mass proved to be a giant, calcified, cystic, hyperplastic parathyroid gland. Radiographic and ultrasonic imaging techniques were quite useful in diagnostic evaluation. Whenever a calcified mediastinal or neck mass is discovered, especially in a patient with hyperparathyroidism, parathyroid enlargement should be a diagnostic consideration.
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Several regional series from Britain and 3 Asian series were typed for the Esterase D polymorphism. It was found that haemolysates up to 5 years old could be reliably typed when prepared from washed anticoagulated red blood cells. Lysates prepared from blood clots do not retain Esterase D activity quite as well. The Manx population has higher Esterase D 2 gene frequencies than neighbouring populations. A Nepalese population exhibits the highest Esterase D 2 gene frequency so far recorded. The other series presented supplement or confirm results already published.
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