[Fabry's disease without angiokeratoma. Diagnosis by ultrastructural study of the skin].
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Biomedical subjects
Publications and source records attributed to R Abelanet.
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Five cases of clear-cell variant of chondrosarcoma (Unni et al.) are reported. The tumors occurred in the epiphyseal region of long bones; three in the femoral head. Roentgenographically, the lesion was usually a well-defined and benign appearing one, either purely lytic (3 cases) or with central radiodensity (2 cases). Histologically, all five cases had areas of conventional chondrosarcoma; however, the greater portion of the tumor was made up of sheets of clear-cells intermixed with nonneoplastic bone trabeculae but devoid of chondroid matrix. Electron microscopic studies showed that these clear-cells possess cytoplasmic microvilli, abundant glycogen particles and prominent golgi complexes, like normal or tumorous chondroid cells usually have. In our experience, the best treatment seemed to be en bloc resection with joint replacement; indeed, despite the fact that they are true chondrosarcomas, these tumors usually have a very slow rate of growth.
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The authors report three cases of bone tumours, two in the scapula and one in the pelvis, which simulated chondrosarcoma on radiological examination. After biopsy it was concluded that they were metastases secondary to carcinoma of the bladder in one case and of unknown origin in the other two.
The term "endocrine polyadenomatoses" includes two types of pathological entities in which there are an association of at least two endocrine tumors having no physiological relationships, and hereditary familial characteristics: Wermer's syndrome (Type I): pancreatic endocrine tumor, pituitary adenoma, and hyperplasia or adenoma of the parathyroids. Sipple' syndrome (Type II): medullary thyroid cancer, one of two pheochromocytomas, and parathyroid hyperplasia. The multifocal character of the pancreatic D-cell lesions in the first type, and the bilateral nature of the thyroid and adrenal lesions in the second type are particular features of each of them. Apart from some parathyroid lesions, for which the origin is still debatable, these endocrine tumors enter into the framework of the apudomes and are derived therefore from the neural crest. The association of other tumoral varieties of the APUD (carcinoid) type with nervous tissue tumors, and with dysmorphic anomalies suggests that these syndromes are the expression of a dysgenesis affecting more or less completely, structures derived from the neural crest.
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The authors report five cases treated by wide resection. Pathological studies were made of the whole of the lesion. Three tumours were situated at the upper end of the femur, one at the upper end of the humerus and one at the level of the tibial plateau. The specific features were localisation in an epiphysis and histological areas of clear cells whose cytoplasm contained glycogen. From the anatomical and radiological points of view, these tumours were like chondroblastomata but their progress was more like that of chondrosarcomata. The author concludes that they should be distinguished from both types of tumour.
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The authors report the case of a 62-year-old woman in whom, 18 months following the development of bilateral parotid hypertrophy followed by a dry syndrome, there was the onset of an angioimmunoblastic lymphadenopathy (AIL) which consisted of the association of a multiple lymphadenopathy with a characteristic histological appearance, although poor in plasmocytes, and a febrile syndrome, but in the absence of a complete syndrom from a laboratory standpoint. This fact, incombination with the richness of the nodes in epitheloid cells, is such that this case resembles the type II "dysimmune and pseudo-lymphomatous lymphadenopathies" (DPLL) of Delsol et al. Although the term AIL has never been used before in the title of previous publications of pseudo-lymphomas occuring during Sjögren's syndrome, it would seem possible, as has already been suggested by Diebold et al. (3) with regard to several cases, that certain of these pseudo-lymphomas are true AIL. The rapidly fatal course with visceral spread shown at autopsy and above all the presence of exclusively immunoblastic plaques in several mode areas led, on the basis of the criteria of Nathwani et al. (22), to acceptance of the coexistence of an immunoblastic sarcoma.
The authors report the case of a 30-year-old man with granulocytic sarcoma of the chest wall presenting as a swelling with axillary lymphadenopathy followed by pleuropericardial effusions. The myeloblastic nature of the tumor cells was confirmed on the adenogram by the detection of granulations, rare Auer bodies and myeloperoxydase activity. It was confirmed by the presence of numerous granulations by electron microscopy and by that of a chloracetate esterase activity detected using Leder's protocol (9) on sections of material mounted in paraffin wax after formol fixation. Four marrow biopsies form different sites were normal. The course was fatal in six months, despite multiple chemotherapy, with massive invasion of the thorax by the tumor without the presence of myeloblasts in the circulating blood. The autopsy confirmed the preponderance of thoracic involvement (greenish in colour) and the presence of diffuse marrow myeloblastosis. In the light of this case, the rare instances (of the order of 10) of aleukaemic chloroma recorded in the literature are reviewed, emphasising the difficulties of diagnosis of these tumours and the ways in which they may be overcome.
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Nine hypoglycaemia-inducing pancreatic tumours were studied by electron microscopy. In 8 of these tumours, it was possible to identify, within the cell cytoplasm, secretory granules with a "paracrystalline" content, identical in appearance to the granules of the B cell of the normal human pancreas. Thus electron microscopy would appear to be a reliable and sensitive method for the morphological identification of these endocrine tumours of the pancreas.
Africa, and in particular North Africa, is a site of high prevalence of carcinoma of the nasopharynx in the young subject. There is a marked male predominance and a clear peak of incidence between 15 and 25 years. The presenting feature is usually rapidly growing cervical lymphadenopathy. The diagnosis is based upon histological examination of these nodes. It is a squamous carcinoma, usually highly undifferentiated and difficult to identify. However, for the experienced observer, the special appearance of tumour proliferation makes it possible to localise the primary tumour in the epi-pharyngeal region. Current work is aimed at research into a possible genetic predisposition and the relationship which the carcinoma may have with the Epstein-Barr virus.