Familial scleroderma-evidence for environmental versus genetic trigger

C. O. Stephens, D. C. Briggs, J. Whyte, C. M. Artlett, A. B. Scherbakov, N. Olsen, N. G. Gusseva, N. J. Mchugh, P. J. Maddison, K. I. Welsh, C. M. Black

Research output: Contribution to journalArticlepeer-review

21 Scopus citations


Families with more than one case of scleroderma are unusual. Four families each with two members (in one case monozygotic twins) with scleroderma (systemic sclerosis, SSc) were identified. Clinical, immunogenetic and autoantibody studies were carried out. Multicase SSc families cited in the literature were reviewed.Each family pair shared cutaneous subset of disease severity, and SSc-associated autoantibody. HLA typing showed two pairs shared an HLA-DR allele associated with scleroderma (DR3 or DR5), while one also had alleles reported in association with their SSc-specific autoantibody. Review of dates and ages of onset suggested that the timing of onset of scleroderma is more likely to have an environmental trigger than to be encoded genetically.

Original languageEnglish (US)
Pages (from-to)1131-1135
Number of pages5
Issue number12
StatePublished - Dec 1994

All Science Journal Classification (ASJC) codes

  • Rheumatology
  • Pharmacology (medical)


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