Lipogranulomatosis, disseminatedE75.2

Author:Prof. Dr. med. Peter Altmeyer

All authors of this article

Last updated on: 29.10.2020

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Synonym(s)

color's disease; familial lipogranulomatosis; Farber's disease; Lipogranulomatosis familial

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HistoryThis section has been translated automatically.

Farber et al., 1957

DefinitionThis section has been translated automatically.

Sphingolipidosis, with autosomal recessive inherited ceramidase deficiency and subsequent ceramide storage in the tissues.

ManifestationThis section has been translated automatically.

Early childhood.

Clinical featuresThis section has been translated automatically.

  • Skin symptoms: Subcutaneous brownish nodules, especially over the extensor sides of the large joints.
  • Extracutaneous manifestation: Pasty-edematous joint swelling with painful restriction of movement in almost all joints. Hoarseness due to involvement of the larynx. Failure to thrive, respiratory insufficiency due to deposits in the lung tissue.

HistologyThis section has been translated automatically.

Granulomatous, ceramide-containing intralysosomal deposits in all tissues (= Faber bodies).

Differential diagnosisThis section has been translated automatically.

Multicentric reticulohistiocytosis (Weber and Freudenthal); other sphingolipidoses; xanthomas.

TherapyThis section has been translated automatically.

Not known.

Progression/forecastThis section has been translated automatically.

Mostly acute course with death in the first 2 years of life.

LiteratureThis section has been translated automatically.

  1. Bar J et al (2001) Molecular analysis of acid ceramidase deficiency in patients with Farber disease. Hum Mutate 17: 199-209
  2. Farber S et al (1957) Lipogranulomatosis: a new lipo-glyco-protein storage disease. J Mt Sinai Hosp 24: 816-837
  3. Kattner E et al (1997) Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. Eur J Pediatr 156: 292-295
  4. Muramatsu T et al (2002) Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease. J Inherit Metab Dis 25: 585-592
  5. Moritomo H et al (2002) Surgical treatment of hand disorders in Farber's disease: a case report. J Hand Surg On 27: 503-507
  6. Utikal J et al (2003) Cutaneous non-Langerhans' cell histiocytoses. J Dtsch Dermatol Ges 1: 471-491

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer