Farber lipogranulomatosis

info · Genetic

A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition.

Signs and symptoms

Limitation of knee mobility
Hoarse voice
Joint swelling
Hyperextensibility of the finger joints
Ulnar deviation of the wrist
Subcutaneous nodule
Arthralgia
Osteolytic defects of the phalanges of the hand
Osteolysis involving bones of the feet
Recurrent fever

Also known as: Farber disease; N-laurylsphingosine deacylase deficiency; acid ceramidase deficiency