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Farber disease

A subcutaneous tissue disease characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and progressive hoarseness (due to laryngeal involvement) that presents in infancy, to varying phenotypes with respiratory and neurologic involvement.

Joint swelling

Total: 2

(per page)

PMID (PMCID)
20609603	MALE
	Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.
	Cvitanovic-Sojat L, Gjergja Juraski R, Sabourdy F, Fensom AH, Fumic K, Paschke E, Levade T. Eur J Paediatr Neurol. 2011;15(2):171-3.
	Farber lipogranulomatosis should be suspected in children with joint swelling as the first and only symptom of disease.
20609603	MALE
	Farber lipogranulomatosis type 1--late presentation and early death in a Croatian boy with a novel homozygous ASAH1 mutation.
	Cvitanovic-Sojat L, Gjergja Juraski R, Sabourdy F, Fensom AH, Fumic K, Paschke E, Levade T. Eur J Paediatr Neurol. 2011;15(2):171-3.
	We report a boy with an unusually late presentation of Farber lipogranulomatosis type l. The first symptoms appeared at the end of the first year of life in the form of joint swelling; other symptoms such as cherry-red spot, hoarseness, subcutaneous nodules appeared much later.