Disease Information for Farber disease/ceramide lipidosis

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Clinical Manifestations
Signs & Symptoms
Non-tender nodules/subcutaneous
Skin lesions/Plaques periarticular
Subcutaneous nodules
Anorexia in Infant
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Feeding/Apetite Problems Child
Hypotonia
Arthritis Children
Enlarged/deformed joints
Hoarseness
Odd sounding voice/husky
Splenomegaly
Cherry red spot/retinal sign
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Lethal
Course/Progressive
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Diagnostic Test Results
Pathology
BX/Lung biopsy/Granulomas in lung
PATH/Granulomatous tissue/specimen
X-RAY
Xray/Chest abnormal
Xray/Wrist abnormal
Associated Diseases & Rule outs
Associated Disease & Complications
Arthritis
Larynx cartilage manifestation/effect
Respiratory neonatal distress syndrome
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Acid Ceramidase Defect
Pathophysiology/Chondroitin Sulfate B accumulation
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Inflammatory/Granulomatous disease (ex)
PROCESS/Lipidosis/storage disorder (ex)
PROCESS/Sphingolipid metabolic disorder (ex)
PROCESS/Granulomatous Disease
Synonyms
Synonym
Farber disease ceramide lipidosis, Synonym/Acid Ceramide Deficiency (Farber), Synonym/Farbers Lipogranulomatosis, Synonym/Farber-Uzman syndrome
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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External Links Related to Farber disease/ceramide lipidosis
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Wikipedia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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