PMID: 6972218May 1, 1981Paper

Three siblings with scleroderma (systemic sclerosis) and two with Raynaud's phenomenon from a single kindred

Arthritis and Rheumatism
W B SheldonE C LeRoy


A kindred is reported which contains 3 siblings with scleroderma, 2 siblings with Raynaud's phenomenon, and 2 first-degree relatives with histories suggestive of connective tissue syndromes. Studies of microvascular morphology and flow, serum endothelial cytotoxic activity, antinuclear antibodies, and HLA haplotypes in 18 relatives and 6 spouses revealed that 4 of 5 affected siblings expressed the HLA-DRw4 antigen, which was also present in 2 of 3 asymptomatic relatives whose serum contained endothelial cytotoxic activity. The evidence for an inherited susceptibility to scleroderma is reviewed.


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