Farber lipogranulomatosis

Farber lipogranulomatosis is a rare disorder that affects the way sphingolipids, a type of fat, are processed in the body. People with this condition may experience a range of symptoms, with some presenting the classic features as infants, including painful and progressively deformed joints, subcutaneous nodules (small lumps under the skin), and progressively worsening hoarseness due to involvement of the larynx. In addition to these common signs, there are varying phenotypes that might include respiratory and neurological issues. The disease shows a spectrum of severity, and its presentation can differ from one person to another.

Common symptoms include painful, deformed joints, firm lumps under the skin, and worsening hoarseness in the voice. In some cases, people may also experience respiratory difficulties and neurological issues. These symptoms can vary in intensity and may appear in infancy.

Farber lipogranulomatosis is linked to changes in the ASAH1 gene. These changes affect the function of acid ceramidase, an enzyme required for proper sphingolipid metabolism. This enzyme deficiency leads to an accumulation of sphingolipids in the body, which is thought to cause many of the condition's signs and symptoms.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.