title: An unusual form of primary systemic amyloidosis: amyloid elastosis: report of a case treated by haematopoietic cell transplantation.
abstract: Amyloid elastosis is a rare variant of primary systemic amyloidosis characterized by amyloid deposited around elastic fibres. Only two cases, with pseudoxanthoma elasticum-like features and fatal outcome, have been reported. A 56-year-old woman presented with polyneuropathy and a diffuse plane xanthoma-like eruption. Light and electron microscopy studies revealed deposits of amyloid L encasing either normal-looking or short, fragmented elastic fibres in the dermis in a pattern characteristic of amyloid elastosis. The patient had medullary plasmocytosis with lambda light chain restricted expression and underwent autologous stem cell transplantation, which resulted in progressive regression of mucocutaneous signs and stabilization of the polyneuropathy. Our case extends the spectrum of clinical and histopathological presentations of amyloid elastosis. Haematopoietic cell transplantation might improve outcome in patients with multisystem disease.
authors.affiliation: Department of Dermatology, University Hospital, Rue Micheli-du-Crest 24, CH-1211 Geneva 14, Switzerland.
authors.forename: G
authors.initials: G
authors.lastname: Vecchietti
authors.forename: I
authors.initials: I
authors.lastname: Masouyé
authors.forename: D
authors.initials: D
authors.lastname: Salomon
authors.forename: C
authors.initials: C
authors.lastname: Dozier
authors.forename: J-H
authors.initials: JH
authors.lastname: Saurat
authors.forename: C
authors.initials: C
authors.lastname: Helg
authors.forename: L
authors.initials: L
authors.lastname: Borradori
mesh_terms: D000686:Amyloidosis / Q000473:pathology / Q000628:therapy*; D003240:Connective Tissue Diseases / Q000473:pathology / Q000628:therapy*; D004547:Elastic Tissue / Q000648:ultrastructure*; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008875:Middle Aged; D012867:Skin / Q000648:ultrastructure