farber disease in iran

farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). characteristics are early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement in affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. three classic signs occur in farber lipogranulomatosis: a hoarse voice or a weak cry, small lumps of fat under the skin and in other tissues (lipogranulomas), and swollen and painful joints. affected individuals may also have difficulty breathing, an enlarged liver and spleen (hepatosplenomegaly), and developmental delay. here we report 6 patients with the diagnosis of farberlipogranulomatosis in the past 7 years, confirmed by mutation analysis, and detected 4 novel mutations in them. clinical pictures in our patient were mostly,joint swelling and tenderness, and weak cry, 5 of the patients were female and only one affected boy who died at newborn period. three of them showed hepatosplenomegaly. three of the patients are alive. we analysed asah1 gene and detected 4 novel mutations on them.