Favorable outcome of allogenic hematopoietic stem cell transplantation in farber disease

Abstract

Farber disease is a rare autosomal recessively inherited disorder caused by acid ceramidase deficiency. Painful subcutaneous skin nodules, progressive joint stiffness, and laryngeal involvement leading to a progressive hoarseness are the main characteristics of the disease. We report favorable outcome of hematopoietic stem cell transplantation after 24 months of follow up in a 2.7-years-old girl with Farber’s disease who was transplanted from her 49-years-old maternal grandfather resulting in resolution of her symptoms. Hematopoetic stem cell transplantation could provide sufficient amount of enzyme and accordingly diminish or stabilize the symptoms in these patients.