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Full length article| Volume 84, ISSUE 6, P1023-1032, June 01, 1988

Familial clustering of scleroderma spectrum disease

  • Andrew R McGregor
    Footnotes
    Affiliations
    Division of Rheumatology and Immunology, Department of Medicine, Department of Microbiology and Immunology, Medical University of South Carolina, Charleston, South Carolina, USA
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  • Ada Watson
    Affiliations
    Harvard Medical School, Dana-Farber Cancer Institute, Center for Blood Research, Boston, Massachusetts, USA
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  • Edmund Yunis
    Affiliations
    Harvard Medical School, Dana-Farber Cancer Institute, Center for Blood Research, Boston, Massachusetts, USA
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  • Janardan P Pandey
    Affiliations
    Division of Rheumatology and Immunology, Department of Medicine, Department of Microbiology and Immunology, Medical University of South Carolina, Charleston, South Carolina, USA
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  • Kazuhiko Takehara
    Footnotes
    Affiliations
    Division of Rheumatology and Immunology, Department of Medicine, Department of Microbiology and Immunology, Medical University of South Carolina, Charleston, South Carolina, USA
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  • J.Thomas Tidwell
    Footnotes
    Affiliations
    Division of Rheumatology and Immunology, Department of Medicine, Department of Microbiology and Immunology, Medical University of South Carolina, Charleston, South Carolina, USA
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  • Alexander Ruggieri
    Footnotes
    Affiliations
    Division of Rheumatology and Immunology, Department of Medicine, Department of Microbiology and Immunology, Medical University of South Carolina, Charleston, South Carolina, USA
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  • Richard M Silver
    Affiliations
    Division of Rheumatology and Immunology, Department of Medicine, Department of Microbiology and Immunology, Medical University of South Carolina, Charleston, South Carolina, USA
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  • E.Carwile LeRoy
    Affiliations
    Division of Rheumatology and Immunology, Department of Medicine, Department of Microbiology and Immunology, Medical University of South Carolina, Charleston, South Carolina, USA
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  • Hildegard R Maricq
    Correspondence
    Requests for reprints should be addressed to Dr. Hildegard R. Maricq, Division of Rheumatology and Immunology, Medical University of South Carolina, 171 Ashley Avenue, Charleston, South Carolina 29425.
    Affiliations
    Division of Rheumatology and Immunology, Department of Medicine, Department of Microbiology and Immunology, Medical University of South Carolina, Charleston, South Carolina, USA
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  • Author Footnotes
    ∗ Current address: 80 Sutton Court, Sutton Court Road, Chiswick, London, W.4., England.
    † Current address: University of Tokyo, Branch Hospital, Dermatology, 3-28-6, Mejirodai, Bunkyo, Tokyo, Japan.
    § Current address: Department of Rheumatology, General Internal Medicine, 2007 Harrison Avenue, Panama City, Florida 32405.
DOI:https://doi.org/10.1016/0002-9343(88)90307-5
Familial clustering of scleroderma spectrum disease
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      Abstract

      This is the second case report of familial scleroderma (systemic sclerosis) in South Carolina. The family includes two cases of scleroderma meeting American Rheumatism Association criteria, one of systemic sclerosis sine scleroderma, and two other cases of undifferentiated connective tissue disease with features of scleroderma spectrum disorders; there are also two cases of Raynaud's phenomenon (one associated with rheumatoid arthritis), for a total of seven affected relatives. Evidence of scleroderma spectrum disorders was sought in six siblings of the two co-index cases and in 23 of the 35 offspring. Laboratory studies included antinuclear antibody determinations and typing for the following genetic markers: HLA (A, B, C, DR), complotypes, Gm and Km allotypes, and alpha-1 antitrypsin phenotypes. No common genetic markers restricted to affected members of this family were found, and no environmental exposures were detected that could explain this familial clustering of cases. This report should however, add to the slowly accumulating information on the genetic characteristics of families at unusually high risk for scleroderma spectrum disorders. Positive antinuclear antibody tests at a titer of Math Eq or higher were present in 57 percent of the first-degree relatives of the affected cases.
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      Article Info

      Publication History

      Accepted: March 22, 1988
      Received: October 26, 1987

      Footnotes

      ☆This study was supported by grants AR-31283 and AR-30431 from the National Institute of Arthritis and Musculoskeletal and Skin Diseases; M-01-RR-01070 from the National Institutes of Health; and by the RGK Foundation.

      Identification

      DOI: https://doi.org/10.1016/0002-9343(88)90307-5

      Copyright

      © 1988 Published by Elsevier Inc.

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