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Systemic sclerosis in a patient with muscle dystrophy
  1. Sara Moutinho-Pereira1,
  2. Eurico Morais-de-Sá2,
  3. Helena Greenfield1 and
  4. P Ricardo Pereira1
  1. 1Department of Medicine, Service of Internal Medicine, Hospital Pedro Hispano, Matosinhos, Portugal
  2. 2Instituto de Investigação e Inovação em Saúde (i3S) e Instituto de Biologia Molecular e Celular (IBMC), Porto, Portugal
  1. Correspondence to Dr Sara Moutinho-Pereira; sarasofia.pereira{at}


Systemic sclerosis is an autoimmune disease that can result in lung fibrosis, and is strongly associated with the presence of serum anti-topoisomerase-I autoantibodies. A young man with genetic muscular dystrophy caused by titin-cap/telethonin (TCAP) gene mutation, developed a severe restrictive lung disease due to a fibrosing interstitial pneumonia secondary to systemic sclerosis with positive anti-topoisomerase-I antibodies. Using amino acid sequence alignment and protein structure modelling, we found that mutant telethonin exposes an amino acid sequence with significant homology to an immunodominant site of topoisomerase-I. Abnormal telethonin results in a loss of integrity of the sarcomere structure, which might result in rhabdomyolysis and abnormal protein exposure to the immune system. Our preliminary analysis suggests a possible role for mutant sarcomere protein telethonin as an immunogenic target recognised by anti-topoisomerase-I antibodies, which could explain the development of systemic sclerosis in this particular patient.

  • Immunology
  • Interstitial lung disease
  • Drugs: respiratory system
  • Connective tissue disease
  • Genetics

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  • Contributors SM-P was the patient’s doctor and wrote the article as well as collected and treated the data and images. EM-d-S processed the protein data and helped to review the article. HG and PP were also the patient’s doctors and helped in the diagnosis and article review.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.