Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (4)

Farber disease
Other Resources UpToDate PubMed

Farber disease

Contributors: Amy Fox MD, David Dasher MD, Jeffrey D. Bernhard MD, Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

Synopsis

Farber disease, also called Farber lipogranulomatosis and fibrocytic dysmucopolysaccharidosis, is a rare autosomal recessive lysosomal storage disease. Patients have ceramidase deficiency with sequelae involving multiple organ systems. The degree of involvement depends on the level of deficiency.

The classic presentation in infancy is composed of the following triad: subcutaneous nodules, hoarseness, and progressive tender joint deformities.

Joint involvement is most often of interphalangeal joints, wrists, elbows, knees, and ankles and is commonly among the first presenting findings. Subcutaneous nodules are usually present over bony prominences and joints but have been described in the oral cavity, nostrils, and ears. Most descriptions include cherry red macules on the trunk.

Granuloma formation in the larynx causes progressive hoarseness in these patients, who commonly will also have difficulty feeding and poor weight gain.

Central nervous system (CNS) involvement is variable but often correlates to cutaneous phenotype and results in progressive psychomotor retardation as well as seizures.

The precise pathogenesis of granulomatous inflammation from ceramidase deficiency is still unclear. For those severely affected, this disease is almost uniformly fatal within the first few years of life, although reports of stem cell transplants exist. Mild phenotypes typically have delayed diagnosis and relatively normal life span.

Codes

ICD10CM:
E75.29 – Other sphingolipidosis

SNOMEDCT:
79935000 – Farber's lipogranulomatosis

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

  • Multicentric reticulohistiocytosis – Multisystem disease that includes arthritis and yellow-brown papules with a predilection for the hands. Histology will be beneficial in this diagnosis: it will show histiocytes and lymphocytes.
  • Juvenile hyaline fibromatosis – Autosomal recessive disease that includes the deposition of hyaline in skin and other organ systems can cause a similar picture with joint deformities and subcutaneous nodules. Histology will show amorphous hyaline material, helping to exclude this as a diagnosis.
  • Polyarticular juvenile idiopathic arthritis – Involves multiple joints and can begin in the first several years of life. Will typically have a negative rheumatoid factor. This disease may have a similar joint presentation but will lack the other cutaneous findings found in Farber disease.
  • Sarcoidosis – Can have diffuse granulomatous infiltrates but is uncommon in children and will not typically cause joint deformities.
  • Other causes of hoarseness, eg, lipoid proteinosis

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Updated:01/19/2022
Copyright © 2022 VisualDx®. All rights reserved.
Farber disease
A medical illustration showing key findings of Farber disease : Hepatomegaly, Hoarseness, Joint swelling, Arthralgia, Splenomegaly, Subcutaneous nodules, Weak cry
Clinical image of Farber disease - imageId=2366528. Click to open in gallery.
Copyright © 2022 VisualDx®. All rights reserved.