title: Allogeneic stem cell transplantation for the treatment of refractory scleromyxedema.
abstract: Scleromyxedema is a rare disorder of connective tissue with unknown etiology. Its manifestation includes a generalized mucin deposition, which is frequently associated with paraproteinemia. The course of scleromyxedema is progressive and often lethal. As a result of its poorly understood pathogenesis, there is no causative treatment option. The efficacy of cytoreductive agents and autologous stem cell transplantation has been reported, but so far allografting as a treatment option has not yet been documented. Herein, we report on a patient with severe neurologic involvement and refractory course attaining durable remission after receiving an allogeneic hematopoietic cell transplant from an human leukocyte antigen-matched sibling. This case not only illustrates a potential new treatment option for selected patients, but also provides insights into the pathogenesis of this rare disease.
authors.affiliation: Medizinische Klinik und Poliklinik I, Universitätsklinikum Carl Gustav Carus der, Technischen Universität, Dresden, Germany. Electronic address: nshayegi@hotmail.com.
authors.forename: Nona
authors.initials: N
authors.lastname: Shayegi
authors.affiliation: Medizinische Klinik und Poliklinik I, Universitätsklinikum Carl Gustav Carus der, Technischen Universität, Dresden, Germany.
authors.forename: Nael
authors.initials: N
authors.lastname: Alakel
authors.affiliation: Medizinische Klinik und Poliklinik I, Universitätsklinikum Carl Gustav Carus der, Technischen Universität, Dresden, Germany.
authors.forename: Jan Moritz
authors.initials: JM
authors.lastname: Middeke
authors.affiliation: Medizinische Klinik und Poliklinik I, Universitätsklinikum Carl Gustav Carus der, Technischen Universität, Dresden, Germany.
authors.forename: J
authors.initials: J
authors.lastname: Schetelig
authors.affiliation: Praxisklinik am Johannisplatz Leipzig, Leipzig, Germany.
authors.forename: Luisa
authors.initials: L
authors.lastname: Mantovani-Löffler
authors.affiliation: Medizinische Klinik und Poliklinik I, Universitätsklinikum Carl Gustav Carus der, Technischen Universität, Dresden, Germany.
authors.forename: Martin
authors.initials: M
authors.lastname: Bornhäuser
mesh_terms: D000328:Adult; D064591:Allografts; D002493:Central Nervous System Diseases / Q000209:etiology / Q000276:immunology / Q000628:therapy; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008297:Male; D010265:Paraproteinemias / Q000150:complications / Q000276:immunology / Q000628:therapy; D012074:Remission Induction; D053718:Scleromyxedema / Q000150:complications / Q000276:immunology / Q000628:therapy*; D057170:Translational Research, Biomedical