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[Diffuse muscular calcification with subcutaneous cysts].

Guang-li Shen1, Wei Zhang, Yi Li

  • 1Department of Neurology,Peking University First Hospital,Beijing 100034,China.

Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences
|December 27, 2005
PubMed
Summary

This case study presents a rare instance of diffuse muscular calcification in a young girl, mimicking myositis ossificans progressiva. The findings suggest a potential new congenital calcium metabolic disease with unique microvascular changes.

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Area of Science:

  • Pathology
  • Genetics
  • Metabolic Disorders

Background:

  • Diffuse muscular calcification is a rare myopathological change linked to abnormal calcium metabolism.
  • It is primarily observed in dermatomyositis and myositis ossificans progressiva.

Observation:

  • A 15-year-old girl presented with subcutaneous cysts, fever, myalgia, and diffuse muscular calcification.
  • Clinical presentation mimicked myositis ossificans progressiva, with nodules rupturing and releasing chalky material.
  • Diagnostic tests including ESR, ENA, RF, CRP, PTH, CK, and EMG were within normal limits; X-rays confirmed diffuse calcification.

Findings:

  • Muscle biopsy revealed perivascular inflammatory cell infiltration, perifascicular muscle fiber atrophy, and degeneration.
  • Numerous "red ragged fibers" (RRF) and succinate dehydrogenase (SDH) positive fibers were noted.

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  • Electron microscopy identified tubular reticular inclusions within vascular endothelium.
  • Implications:

    • The case suggests a potential new type of congenital calcium metabolic disease due to systemic calcium metabolic abnormality.
    • Distinct clinical symptoms and calcification patterns differentiate it from dermatomyositis and myositis ossificans progressiva.
    • Microvascular changes are hypothesized to be the cause of muscle fiber lesions.