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Hereditary complement (C9) deficiency associated with dermatomyositis.

E Ichikawa1, J Furuta, Y Kawachi

  • 1Department of Dermatology, Institute of Clinical Medicine, University of Tsukuba, 1-1-1 Tenno-dai, Tsukuba, Ibaraki 305-8575, Japan. eikoi@md.tsukuba.ac.jp

The British Journal of Dermatology
|May 22, 2001
PubMed
Summary
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This study reports a Japanese woman with dermatomyositis and a hereditary complement component 9 (C9) deficiency. It shows that dermatomyositis muscle lesions can occur even without the C5b-9 membrane attack complex formation.

Area of Science:

  • Immunology
  • Genetics
  • Rheumatology

Background:

  • Dermatomyositis is an idiopathic inflammatory myopathy.
  • The complement system, particularly the terminal pathway involving C5b-9, plays a role in inflammatory processes.

Observation:

  • A 28-year-old Japanese woman presented with facial erythema and progressive muscle weakness, consistent with dermatomyositis.
  • She was found to have a hereditary deficiency of the ninth complement component (C9).
  • Despite low serum hemolytic complement (CH50) levels, muscle biopsy confirmed inflammatory myopathy.

Findings:

  • Genetic analysis revealed a nonsense mutation in the C9 gene, causing a total absence of C9.
  • Prednisolone treatment improved dermatomyositis symptoms but did not alter CH50 levels.

Related Experiment Videos

  • This indicates that C9 deficiency and the inability to form the C5b-9 membrane attack complex did not preclude the development of dermatomyositis.

    • Implications:

    • This case highlights that dermatomyositis can manifest despite a complete defect in the complement terminal pathway.
    • It suggests alternative or parallel inflammatory pathways may drive muscle damage in dermatomyositis.
    • Understanding these pathways could lead to novel therapeutic strategies for complement-related inflammatory diseases.