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Limited systemic sclerosis

Orpha number ORPHA220407
Synonym(s) Systemic sclerosis sine scleroderma
Prevalence Unknown
Inheritance Not applicable
Age of onset Adult
ICD-10
  • M34.0
ICD-O -
OMIM -
UMLS -
MeSH -
MedDRA -

Summary

Limited systemic sclerosis (lSSc) (or SSc sine scleroderma) is a subset of systemic sclerosis (SSc; see this term) characterized by organ involvement in the absence of fibrosis of the skin.

Prevalence is unknown.

Patients do not have skin fibrosis but only Raynaud's phenomenon, and are at risk of organ involvement (fibrosis and vascular obliteration of lungs, heart, digestive tract). They can later present with esophageal dysmotility which provokes gastroesophageal reflux and sometimes dysphagia, and can also suffer from lung fibrosis and pulmonary arterial hypertension.

The exact cause of lSSc is unknown. The disease originates from an autoimmune reaction which leads to overproduction of collagen. In some cases, SSc is associated with exposure to chemicals (silica, solvents, hydrocarbons, etc.).

Diagnosis can be difficult due to the absence of skin involvement. Nailfold capillaroscopy shows a SSc pattern and blood tests show a high incidence of anti-centromere antibodies.

Expert reviewer(s)

  • Pr Eric HACHULLA

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Detailed information

Emergency guidelines
  • FR (2010,pdf)
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