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PURPOSE: May-Hegglin anomaly is a rare hereditary condition characterized by the triad of thrombocytopenia, giant Platelets, and inclusion bodies in leukocytes. Clinical features and the pathogenesis of bleeding in this disease are poorly defined. PATIENTS AND METHODS: From 1988 to 1996 we studied 15 new May-Hegglin anomaly patients from 7 unrelated Italian families. In addition to clinical examination and routine laboratory testing, we measured bleeding time, platelet aggregation and release reaction, and platelet staining for tubulin, and performed ultrastructural study of polymorphonuclear leukocytes. RESULTS: Although the mean age of our patients was 33 years, May-Hegglin anomaly had not been previously recognized in any of them. Bleeding diatheses ranged from severe to absent, and platelet count from 26 to 178 X [10.sup.9]/L. No correlation was found between bleeding tendency and platelet count. Previous therapy with corticosteroids, high-dose immunoglobulins, and splenectomy had no effect on platelet count or bleeding diathesis. Desmopressin infusion greatly shortened the bleeding time in the most severely affected patient. The in vitro function of platelets was normal except for the absence of shape change in all subjects and defective response to epinephrine in 8 of 15 patients. Platelet tubulin was distributed unevenly instead of being organized in a circumferential band at the cell periphery. CONCLUSION: The diagnosis of May-Hegglin is easily missed, and its frequency is probably underestimated. A qualitative defect of platelets may be responsible for mild bleeding diathesis even in the absence of thrombocytopenia, while severe bleeding results from both qualitative and quantitative platelet defects. May-Hegglin anomaly should be suspected whenever a patient has a low platelet count or a bleeding diathesis of unknown origin. Am J Med. 1998;104:355-360. [C] 1998 by Excerpta Medica, Inc.

Background. The CD30/Ki-1 antigen characterizes a series of non-Hodgkin's lymphomas (NHL) predominantly showing anaplastic large cell (ALCL) morphology and frequently involving the skin and other extranodal sites. In cutaneous large cell lymphomas, the CD30 expression was indicated as a favorable prognostic marker independently from cytology, anaplastic versus nonanaplastic. The stomach is the most common site of extranodal lymphomas in the adult population, but primary gastric CD30+ lymphomas have been reported rarely. Methods. The clinical, morphologic, and immunohistochemical features of six cases with primary CD30/Ki-1+ gastric large cell lymphomas were analyzed. Results. The mean age of patients was 64 years with a prevalence of women (M:F ration = 1:2). Patients were assigned to Stage IE or IIE. Three of them died of disease, whereas the others are still alive (mean follow-up, 18 months). Three of six cases had ALCL morphology, whereas other cases had centroblastic, immunoblastic, and high-grade mucosa-associated lymphoid tissue lymphoma. Immunohistochemistry revealed a B-cell phenotype in three of six cases; a T-cell phenotype in one of six cases; and a null, non-B, non-T phenotype in two of six cases. Conclusions. Within CD30+ primary gastric large cell lymphomas, cytology, anaplastic versus nonanaplastic, did not affect clinical presentation and/or prognosis. The survival rate of the patients studied is in keeping with literature reports regarding prognosis of primary high-grade gastric NHL. The findings suggest that clinical behavior of this extranodal lymphoma is more closely related to clinical symptoms and initial stage of disease than to CD30 expression.

The chronic myeloproliferative disorders (CMD) represent a group of diseases which have in common the abnormal proliferation of some cell contributing to the blood. All are thought to arise when a single cell in the bone marrow goes awry and multiplies without adherence to its original 'plan'. If the cell is a precursor of red blood cells, then polycythemia vera is the result. If the precursor cell is a megakaryocyte, which forms platelets (thrombocytes), then idiopathic thrombocythemia is the result. Other myeloproliferative syndromes include myelofibrosis with myeloid metaplasia and chronic myelogenous leukemia. While these classes represent many of the cases observed in the clinic, there are intermediate forms which share features of two typical classes. Furthermore, there seem to be variant forms which have features of chronic myeloproliferative disorders but are not immediately recognizable as such. The authors describe the important features of 18 cases that failed to satisfy the diagnostic criteria for the typical forms of CMD. All 18 cases occurred in patients younger than 46 years of age. In 11 cases, the patients had signs such as enlarged spleen, excessive bone marrow growth, and a mild increase of platelets or white blood cells in the blood. Rare immature bone marrow cells appeared in the blood of some of the 11 patients. In the other seven patients, a diagnosis of CMD was made only after an enlarged spleen was removed and blood clotting complications began. In two cases, these complications were fatal. Fifteen patients are alive and appear stable; in 12 chemotherapeutic treatment to kill the renegade cells has not proved necessary. These cases illustrate the features of a slowly progressing chronic myeloproliferative disorder affecting younger patients. They also illustrate the dangers of removing an enlarged spleen when the cause of the splenomegaly has not been determined. (Consumer Summary produced by Reliance Medical Information, Inc.)