Favorable outcome of allogenic hematopoietic stem cell transplantation in farber disease
Journal Title: International Journal of Clinical Rheumatology - Year 2018, Vol 13, Issue 5
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.
Authors and Affiliations
Amir Ali Hamidieh, Tahereh Rostami, Maryam Behfar, Azadeh Kiumarsi, Ardeshir Ghavamzadeh
Keywords
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