Acute Rehabilitation Unit Medical Director UCLA/VA Los Angeles, California, United States
Case Diagnosis: 53 year old male with scleromyxedema admitted to the inpatient rehabilitation unit.
Case Description: He initially had chest and facial skin tightness with decreased appetite and fatigue. Skin tightening worsened, becoming diffuse, associated with weight loss, proximal muscle weakness, and dysphagia, eventually requiring gastric tube placement. Skin biopsy revealed scleromyxedema. Further workup showed normal thyroid levels and low level of Immuglobulin G-kappa monoclonal protein, suggestive of an associated monoclonal gammopathy. Rheumatology and hematology/oncology services placed him on scheduled intravenous immunoglobulin (IVIG), bortezomib, cyclophosphamide, and dexamethasone treatments. Due to significant muscle weakness, he was admitted to the inpatient rehabilitation unit. He spent two weeks in the unit. Despite minimal improvement with Functional Independence Measure (FIM) scores, quality of life improved with coordination of care from different specialties, nutritionist and dietitians helping to individualize his diet, having his family involved, and appropriate assistive devices provided for comfort, ease of care, and mobility.
Discussions: Scleromyxedema is a rare skin disorder characterized by accumulation of mucin in the skin, resulting in papular and sclerodermoid bumps, and eventual fibrosis and sclerosis. Currently, the cause of the disease isn’t known and there’s no standardized treatment. Usually, this disorder affects those between the ages of 30 and 80, with no gender or race predominance. Symptoms can include dysphagia, hoarseness, polyarthritis, proximal myopathy, cardiac abnormalities, eye abnormalities, difficulty breathing, and neurological dysfunction. According to the literature, IVIG has been used as initial treatment. Plasmapheresis is another short-term treatment option. Other treatments include thalidomide, systemic glucocorticoids, and, for those without an adequate response, autologous bone marrow transplantation, melphalan, and bortezomib with dexamethasone. There are case reports suggesting clinical improvement with chemotherapeutic agents such as cyclophosphamide.
Conclusions: Scleromyxedema can be severely debilitating, and for those whose FIM scores do not improve, quality of life can improve with a dedicated multi-disciplinary team approach.