title: First case of surgical treatment of Farber's disease.
abstract: Farber's disease (Farber's lipogranulomatosis), which is inherited as an autosomal recessive trait, was first reported by Farber in 1952. We report a case of Farber's disease in a 12-year-old female. Her younger brother was affected with Farber's disease and died of it at 2 years of age. When she first presented, our patient's main clinical features were a shrill voice; subcutaneous nodules; contracture of the joints throughout the body; and granulomas of the oral cavity, the pharynx, and the upper and lower eyelids. Serial radiographs disclosed deformation of the joints throughout the body. Due to the granulomas in her oral cavity, she could take little food orally and therefore was malnourished. We performed a granulectomy under general anesthesia, and her difficulty with feeding and upper airway obstruction improved. There is no specific treatment for Farber's disease, and most patients reported have died by 2 years of age. This is the first reported patient with Farber's disease who has been surgically treated.
authors.affiliation: Department of Plastic and Reconstructive Surgery, Osaka City University, School of Medicine, Japan.
authors.forename: G
authors.initials: G
authors.lastname: Haraoka
authors.forename: M
authors.initials: M
authors.lastname: Muraoka
authors.forename: N
authors.initials: N
authors.lastname: Yoshioka
authors.forename: S
authors.initials: S
authors.lastname: Wakami
authors.forename: I
authors.initials: I
authors.lastname: Hayashi
mesh_terms: D002518:Ceramides / Q000378:metabolism*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D002517:Galactosylgalactosylglucosylceramidase / Q000172:deficiency*; D005808:Genes, Recessive; D005882:Gingival Diseases / Q000201:enzymology / Q000235:genetics / Q000601:surgery*; D005890:Gingivectomy; D006099:Granuloma / Q000201:enzymology / Q000235:genetics / Q000601:surgery*; D006801:Humans; D008247:Lysosomes / Q000201:enzymology; D012086:Reoperation
chemical_list: D002518:Ceramides; D002517:Galactosylgalactosylglucosylceramidase