Intravenous gammaglobulin and thalidomide may be an effective therapeutic combination in refractory scleromyxedema: case report and discussion of the literature.

OBJECTIVES

Scleromyxedema, a rare systemic disease of unknown etiology, presents with progressive dermal mucin deposition, causing skin thickening and a variety of gastrointestinal, neurologic, pulmonary, cardiac, and renal complications. Scleromyxedema is notoriously difficult to treat. Our objective was to suggest a new treatment option and to propose a novel tool, musculoskeletal ultrasound, for diagnosis and disease monitoring.

METHODS

We present a patient with a severe scleromyxedema with cutaneous, gastrointestinal, hematologic, and neurologic manifestations. Having failed multiple therapeutic attempts, he responded to treatment with intravenous gammaglobulin (IVIG) and oral thalidomide. Using high-frequency (13 Hz) ultrasound and electronic calipers, we obtained 3 measurements of skin thickness before and after treatment to demonstrate response to treatment. A focused review of the published literature on scleromyxedema, with an emphasis on treatment, was conducted and the results were reviewed in this article.

RESULTS

Following treatment with IVIG, the patient showed dramatic improvement in his clinical symptoms and remained in remission through combination IVIG infusions (2 g/kg) and oral thalidomide (150 mg/d). Literature review revealed the absence of any controlled studies for the treatment of scleromyxedema. Various agents have been proposed in case reports and small series with variable success. Emerging data on the use of IVIG or thalidomide alone have been encouraging.

CONCLUSION

IVIG and thalidomide in combination may be an effective novel treatment of scleromyxedema. Additionally, skin ultrasonography, a noninvasive test, may become a useful diagnostic and disease activity monitoring tool.