Three siblings with scleroderma (systemic sclerosis) and two with Raynaud's phenomenon from a single kindred.
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.
D000328:Adult; D000368:Aged; D000428:Alcohol Drinking; D000974:Antibodies, Antinuclear; D004415:Dyspepsia / Q000150:complications; D004941:Esophagitis / Q000150:complications; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011928:Raynaud Disease / Q000235:genetics* / Q000473:pathology; D012595:Scleroderma, Systemic / Q000235:genetics* / Q000473:pathology; D012907:Smoking
D000974:Antibodies, Antinuclear