Histiocytoses héréditaires et sporadiques

Abstract

Gaucher’s disease is an autosomal recessive disorder due to a deficit in a lysosomal enzyme (beta-glucocerebrosidase) and is characterized by deposits of glucosylceramide in the cells of the liver (hepatomegaly), spleen (splenomegaly) and bone marrow (osseous destruction, hematologic abnormalities, articular manifestations), associated biochemical abnormalities (increase in angiotensin-converting enzyme, ferritin, tartrate-resistant acid phosphatase and chitotriosidase). Acute or chronic neurological forms (type 2 and 3) account for only 5 % of patients suffering from Gaucher’s disease and are less frequent than the non-neurological forms (type 1). Enzyme replacement therapy is currently available. Fabry’s disease is an inborn error of metabolism caused by the deficiency of α-galactosidase. The signs and symptoms are the result of lipid deposition in numerous cell types. The condition usually begins in childhood or adolescence with recurrent painful crises, angiokeratomas, and corneal dystrophy, then gastrointestinal, cardiac, renal and cerebrovascular problems occur in the fourth and fifth decades of life. Farber’s disease (or lipogranulomatosis) is a rare and progressive disorder of infancy and early childhood transmitted as an autosomal recessive characteristic and accompanied by hoarseness, painful and swollen joints, subcutaneous and pulmonary abnormalities. The disease is due to a deficiency of acid ceramidase activity that leads to an accumulation of ceramide in the kidneys, liver, lungs, and lymph nodes. The Niemann-Pick group of diseases can now be classified into two categories, those with a primary deficiency in acid sphingomyelinase activity (types A and B) and those with defective intra-cellular processing and transport of LDL (type C). Foam cell infiltration and visceromegaly are common features in all cases, whereas severe neurologic involvement occurs only in types A and C, and not in type B. Chester-Erdheim’s disease is an exceptional xanthogranulomatosis which comes within the scope of histiocytosis. Cardiac and pulmonary manifestations caused by liberation of cholesterol from foam cells and xanthomatous patches in the eyelids, chronic lipogranulomatous pyelonephritis, breast and muscle involvement have been reported. Mild local pain and tenderness over areas of skeletal abnormality are noted. Radiographic abnormalities are distinctive. Multicentric reticulohistiocytosis is a rare systemic disease of unknown aetiology, characterized by symmetric destructive polyarthritis and mucocutaneous eruptions in various locations. It may represent a paraneoplastic syndrome, and may associate with autoimmune diseases.