Stephens C O, Briggs D C, Whyte J, Artlett C M, Scherbakov A B, Olsen N, Gusseva N G, McHugh N J, Maddison P J, Welsh K I
Royal Free Hospital, London.
Br J Rheumatol. 1994 Dec;33(12):1131-5. doi: 10.1093/rheumatology/33.12.1131.
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.
有多例硬皮病的家庭并不常见。我们识别出了四个家庭，每个家庭中有两名成员患有硬皮病（系统性硬化症，SSc）（其中一个家庭是同卵双胞胎）。我们进行了临床、免疫遗传学和自身抗体研究。对文献中引用的多例SSc家庭进行了回顾。每对家庭成员都有相同的皮肤疾病严重程度亚组以及与SSc相关的自身抗体。HLA分型显示，有两对家庭成员共享与硬皮病相关的HLA - DR等位基因（DR3或DR5），而其中一对还拥有与他们的SSc特异性自身抗体相关报道的等位基因。对发病日期和年龄的回顾表明，硬皮病的发病时间更有可能由环境触发因素引起，而非由基因编码决定。
