Laura K Hummers1. 1. Division of Rheumatology, Department of Medicine, Johns Hopkins Scleroderma Center, Johns Hopkins University, Baltimore, Maryland, USA.
Abstract
PURPOSE OF REVIEW: To synthesize the current known data on pathogenesis and treatment of scleromyxedema. This review will also highlight the clinical presentation, systemic features and outcomes and distinguishing features between scleromyxedema and scleroderma, as a common mimic. RECENT FINDINGS: Most recent publications have focused on describing treatment responses with novel therapies, with the majority of cases reporting success with intravenous immunoglobulin. However, other therapies suggest promise as well in case reports, including bortezomib, thalidomide and stem cell transplantation. There is little information on pathogenesis; however, focus has been on the relationship between the mucin deposition and the monoclonal immunoglobulins that are seen in almost all patients with scleromyxedema. SUMMARY: Scleromyxedema is a rare mucinous deposition disorder that shares clinical features with scleroderma but has important distinguishing features in clinical presentation and major organ complications that should be recognized. Patients typically respond well to therapy as highlighted in several larger series, but poor outcomes are reported in a few cases.
PURPOSE OF REVIEW: To synthesize the current known data on pathogenesis and treatment of scleromyxedema. This review will also highlight the clinical presentation, systemic features and outcomes and distinguishing features between scleromyxedema and scleroderma, as a common mimic. RECENT FINDINGS: Most recent publications have focused on describing treatment responses with novel therapies, with the majority of cases reporting success with intravenous immunoglobulin. However, other therapies suggest promise as well in case reports, including bortezomib, thalidomide and stem cell transplantation. There is little information on pathogenesis; however, focus has been on the relationship between the mucin deposition and the monoclonal immunoglobulins that are seen in almost all patients with scleromyxedema. SUMMARY:Scleromyxedema is a rare mucinous deposition disorder that shares clinical features with scleroderma but has important distinguishing features in clinical presentation and major organ complications that should be recognized. Patients typically respond well to therapy as highlighted in several larger series, but poor outcomes are reported in a few cases.
Authors: Christopher A Mecoli; C Conover Talbot; Andrea Fava; Christopher Cheadle; Francesco Boin; Fredrick M Wigley; Laura K Hummers Journal: Arthritis Care Res (Hoboken) Date: 2020-05-14 Impact factor: 4.794