%0 Journal Article
%T Farber disease: clinical presentation, pathogenesis and a new approach to treatment
%A Karoline Ehlert
%A Michael Frosch
%A Natalja Fehse
%A Axel Zander
%A Johannes Roth
%A Josef Vormoor
%J Pediatric Rheumatology
%D 2007
%I BioMed Central
%R 10.1186/1546-0096-5-15
%X After myeloablative, busulfan-based preparative regimens, four Farber Disease patients without neurological involvement received an allogeneic hematopoietic stem cell transplantation from related and unrelated donors. Stem cell source was BM in three patients and PBSC in one patient; GvHD-prophylaxis consisted of CsA and short course MTX.In all patients, HSCT resulted in almost complete resolution of granulomas and joint contractures, considerable improvement of mobility and joint motility without relevant therapy-related morbidities. All patients are alive and well at this point with stabile donor cell chimerism and without evidence of chronic GvHD or other late sequelae of stem cell transplantation.Allogeneic hematopoietic stem cell transplantation provides a promising approach for Farber Disease patients without neurological involvement.Ceramidase deficiency (Farber lipogranulomatosis or Farber Disease), first described as an inborn storage disease by Farber and coworkers [1,2], leads to tissue accumulation of ceramide due to deficient activity of lysosomal ceramidase.The clinical presentation of Farber Disease (FD) is characterized by the appearance of subcutaneous skin nodules, ordinarily near the joints, most often interphalangeal, wrist, elbow and ankle joints, or over points of mechanical pressure. These manifestations are very painful and lead to progressive joint stiffness, limitation of motion by contractures and finally to immobilization and deformation of joints. Also, a characteristic sign of FD is the development of a progressive hoarseness due to laryngeal involvement [4].Beside these major manifestations seven phenotypes have been described which differ in severity and additional organ involvement, like the lungs, nervous system, heart and lymph nodes [4]. Dependent on residual lysosomal ceramidase turnover, patients have a variable degree of central nervous system disease, leading to progressive neurologic deterioration. In most cases the neuronal
%U http://www.ped-rheum.com/content/5/1/15