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disseminated lipogranulomatosis

 

Definition: a form of mucolipidosis that develops soon after birth because of a deficiency of ceramidase; characterized by swollen joints, subcutaneous nodules, lymphadenopathy, and accumulation in lysosomes of affected cells of PAS-positive lipid consisting of ceramide.

Synonym(s): Farber disease, Farber syndrome

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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