Disease Information for Farber disease/ceramide lipidosis

Synonyms:

Farber disease ceramide lipidosis

Definition:

Farber"s Disease; Acid Ceramidase Deficiency; Farber"s Lipogranulomatosis; Farber"s Disease is a rare inherited metabolic disorder; Major symptoms may include hoarseness, painful and swollen joints, nodules under the skin, and growths in the lungs and other parts of the body; The heart and lymph nodes may also be involved; Difficulty in breathing may necessitate the implantation of a breathing tube (tracheostomy) in the throat; Farber"s Disease is inherited as an autosomal recessive genetic trait-------- [NORD 2005]-----------------------Farber"s disease, Also known as: Farber’s lipogranulomatosis; Farber-Uzman syndrome; Disseminated lipogranulomatosis or ceramidase deficiency; Rare, inheritable, disturbance of the fatty metabolism induced by a lysosomal enzyme deficiency with accumulation of ceramide in the tissues; Recognizable at birth or shortly after; manifests with failure to thrive, hoarse cry, feeding difficulty, irritability, motor and mental retardation and erythematous periarticular swellings (nodular plaques in the skin), swelling of joints of extremities, liability to recurrent infections, and cardiac and renal failure; The accumulated substance is mainly chondoritin sulphate B; The course is progressive and death occurs in infancy; Massive body demineralisation and articular erosion may be associated; The carpus may have an appearance similar to that in juvenile rheumatoid arthritis; Histologically, the lesions are granulomatous, and there is an excess of ceramide in the cytoplasm and mast cells; Inheritance is autosomal recessive; First described by Farber in 1952 and again in 1957---------

[whonamedit_com 2005]--------

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