Bias W B, Nyberg L M, Hochberg M C, Walsh P C
Am J Med Genet. 1982 Jun;12(2):227-35. doi: 10.1002/ajmg.1320120213.
Peyronie's disease, a connective tissue disorder of unknown cause, is characterized by the formation of thickened fibrous plaques on the dorsum of the penis. It often occurs simultaneously with other fibrotic changes, most notably Dupuytren's contracture of the hands or feet. There are no previous reports suggesting inheritance of this syndrome; however, Willscher et al reported an association between Peyronie's disease and antigens of the HLA-B7 cross-reacting group. Family studies were undertaken when three patients reported similarly affected first-degree relatives. One kindred showed father-to-son transmission of Peyronie's disease with Dupuytren's contracture in three generations. Pedigree analysis of the three families suggests that Peyronie's syndrome is a male-limited, autosomal-dominant trait. Antigens of the HLA-B7 cross-reacting group occurred in all three kindreds; however, the data ruled out close linkage of the disease and HLA.
佩罗尼氏病是一种病因不明的结缔组织疾病，其特征是阴茎背部形成增厚的纤维斑块。它常与其他纤维化改变同时出现，最显著的是手足的掌腱膜挛缩症。以前没有报告表明这种综合征具有遗传性；然而，威尔斯彻等人报告了佩罗尼氏病与HLA - B7交叉反应组抗原之间的关联。当三名患者报告有类似患病的一级亲属时，进行了家族研究。一个家族三代人中出现了父亲传给儿子的佩罗尼氏病合并掌腱膜挛缩症。对这三个家族的系谱分析表明，佩罗尼氏综合征是一种男性特有的常染色体显性性状。HLA - B7交叉反应组的抗原在所有三个家族中都出现了；然而，数据排除了该疾病与HLA的紧密连锁关系。
