The impact of genetic factors in systemic sclerosis

Ecaterina Bontaş, Akiko Tanikawa, Daniela Bartoş, Elena Pripoaie, Maria Dorobanţu

Research output: Contribution to journalReview articlepeer-review


Scleroderma (progressive systemic sclerosis, SSc) is a multisystem tissue disease whose major pathology is excessive fibrosis, vascular abnormalities, and immune dysfunction. The term of "scleroderma" is derived from the Greek words skleros (hard or indurated) and derma (skin) and it was first described by Hippocrates as thickened skin. The contribution of genetic factors in the development and expression of scleroderma is strongly sustained by the observation of familial clustering of the disease; the high frequency of autoimmune disorders and autoantibodies in family members of patients with SSc; varieties in prevalence and clinical manifestations among different ethnic groups; the increased prevalence of certain HLAs and MHC alleles among different ethnic groups and among patients with different clinical subsets of the disease or with different patterns of autoantibodies.

Original languageEnglish
Pages (from-to)88-94
Number of pages7
JournalArchives of the Balkan Medical Union
Issue number2
Publication statusPublished - 2006 Jun
Externally publishedYes


  • Connective tissue disease
  • Genetic factors
  • Progressive systemic sclerosis
  • Scleroderma

ASJC Scopus subject areas

  • General Medicine


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