[Sea-blue histiocytosis. Clinical and immunological study of a familial case].
This case (a young man) presented a clinical picture of a hard periorbital edema, hepatosplenomegaly and a mild bilateral pulmonary fibrosis. The histopatological pattern of our case (as well as his sister affected with the same syndrome) was characterized by the presence of macrophages full of blue staining granules and bone marrow macrophagic infiltrations. In the pulmonary function tests the volumes and compliance test and diffusing capacity were normal. The enzymatic deficit of the macrophage leads to the increase storage of phosphoglicerides and phosphosphingolipids responsibles for the blue staining with Wright-Giemsa stain. Our case fit into the specific pathology of the macrophage cell in accordance with the more recent views of the autonomy of the MPS (Mononuclear Phagocytic System). The known relationship between macrophages and T and B lymphocites have prompted us to study the cellular and humoral immunological behaviour of our case. We have observed an increased IgM immunoglobulins and an increase of IgM surface membrane receptors. Our results will be illustrated and compared with the until known 70 publicated cases.
D000328:Adult; D001853:Bone Marrow / Q000473:pathology; D006529:Hepatomegaly / Q000473:pathology; D006644:Histiocytes; D006801:Humans; D008099:Liver / Q000473:pathology; D008206:Lymphatic Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D009915:Orbit; D010860:Pigments, Biological; D011658:Pulmonary Fibrosis / Q000209:etiology / Q000473:pathology; D013106:Sphingolipidoses / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D013163:Splenomegaly / Q000473:pathology
D010860:Pigments, Biological
Istiocitosi blu-mare. Studio clinico e immunologico di un caso familiare.