[Idiopathic myelofibrosis with cutaneous myeloid metaplasia].
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Biomedical subjects
Publications and source records attributed to E Feliu.
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A case of myelofibrosis with papulonodular cutaneous lesions in a 49 year old man is reported. The histopathological studies showed the presence of the three hematopoietic lines in the skin lesions, which is a uncommon feature.
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Patients affected by Waldenström's macroglobulinaemia may rarely present specific cutaneous manifestations. The violaceous plaques or tumours infiltrated by lymphoplasmocytoid cells, and the pink, translucent, shiny papules composed of deposits of hyaline monoclonal IgM possess definite clinico-pathological characteristics that may permit the diagnosis before any other data were available. The immunopathological and ultrastructural features of these lesions are described.
Transmission electron microscopy was used to examine marrow samples from 15 patients with aplastic anaemia or acute leukaemia who had been treated with bone marrow transplantation. There were 11 allogeneic, three syngeneic and one autologous graft. The purpose was to estimate the frequency, type and extent of dyserythropoietic change. Transient dyserythropoietic features were substantiated in all cases. Nuclear changes were present in 12 cases, iron laden mitochondria (sideroachrestic phenomena) in 10 and cytoplasmic contacts and/or connections between red cell precursors in 10. Dyserythropoiesis was most conspicuous in the majority of cases between 14 and 28 d after transplantation but it may persist for over 100 d. No deficit in red cell production was noted and it is proposed that dyserythropoiesis in this circumstance is a physiological rather than a pathological phenomenon.
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Molecular, kinetic, and functional studies were carried out on erythrocytes and leukocytes in a Spanish male with G6PD deficiency, congenital nonspherocytic hemolytic anemia (CNSHA), and increased susceptibility to infections. G6PD activity was absent in patient's red cells and was about 2% of normal in leukocytes. Molecular studies using standard methods (WHO, 1967) showed G6PD in the patient to have a slightly fast electrophoretic mobility at pH 8.0 with otherwise normal properties (heat stability at 46 degrees C, apparent affinity for substrates, optimum pH, and utilization of substrate analogues). Other tests showed the patient's granulocytes to engulf latex particles normally, but to have impaired reduction of nitroblue tetrazolium and ferricytochrome-c as well as reduced iodination. Chemotaxis and random migration of the patient's granulocytes were normal as were myeloperoxidase, leukocyte alkaline phosphatase (LAP), and ultrastructural features. The molecular characteristics of G6PD in the patient differed from those of all previously reported variants associated with CNSHA, so the present variant was provisionally called G6PD Barcelona to distinguish it from other G6PD variants previously described. Possible mechanisms for the severe deficiency of G6PD in erythrocytes and granulocytes was investigated by studies on the immunologic specific activity of the mutant enzyme.
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A new case of congenital dyserythropoietic anemia type I is reported in a 12-year-old Spanish boy. In regard to the morphological study at an optical and ultrastructural level, the most outstanding feature was the internuclear bridging connecting two erythroblastic nuclei within a single cytoplasm or stretched between two erythroblasts perfectly individualized.