Myopathy and scleromyxedema

J Neurol. 2019 Aug;266(8):2051-2059. doi: 10.1007/s00415-019-09379-w. Epub 2019 May 21.

Abstract

Scleromyxedema is a chronic, idiopathic disorder associated with monoclonal gammopathy, and characterized by dermal mucin deposition. However, systemic manifestations are frequent, including neuromuscular symptoms. We herein present a 71-year-old man who developed a vacuolar myopathy in a context of a known scleromyxedema, and we compare our observation with the nineteen other cases found in the medical literature. Such an association (especially with suggestive skin abnormalities) has to be known for two reasons. First, this diagnosis might be quite challenging because the myopathy may precede the typical skin changes. Secondly, conversely to other forms of vacuolar myopathy, some of the symptoms may respond (even partially) to immunomodulatory and/or immunosuppressant therapeutics.

Keywords: IVIg; Inflammation; Myopathy; Scleromyxedema; Vacuole.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Aged
  • Humans
  • Immunoglobulins, Intravenous / administration & dosage
  • Lysosomal Storage Diseases / complications*
  • Lysosomal Storage Diseases / diagnostic imaging*
  • Lysosomal Storage Diseases / drug therapy
  • Male
  • Muscular Diseases / complications*
  • Muscular Diseases / diagnostic imaging*
  • Muscular Diseases / drug therapy
  • Scleromyxedema / complications*
  • Scleromyxedema / diagnostic imaging*
  • Scleromyxedema / drug therapy

Substances

  • Immunoglobulins, Intravenous

Supplementary concepts

  • Vacuolar myopathy