Brief Report: Peripheral Osteolysis in Adults Linked to <i>ASAH1</i> (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

Abstract

Our findings indicate that hypomorphic mutations in ASAH1 may result in an osteoarticular phenotype with a juvenile phase resembling rheumatoid arthritis that evolves to osteolysis as the final stage in the absence of neurologic signs. This observation delineates a novel type of recessively inherited peripheral osteolysis and illustrates the long-term skeletal manifestations of acid ceramidase deficiency (Farber's disease) in what appear to be the oldest affected individuals known so far.