Solomon B A, Laude T A, Shalita A R
Department of Dermatology, State University of New York-Health Science Center at Brooklyn 11203, USA.
J Am Acad Dermatol. 1995 May;32(5 Pt 2):858-62. doi: 10.1016/0190-9622(95)91547-8.
Neonatal lupus erythematosus (NLE) is an uncommon disease that is manifested by cutaneous lesions, cardiac conduction defects, or both, that appear in utero or shortly after birth. In approximately 95% of patients, anti-Ro antibody (Ro[SS-A]) has been identified and has become the serologic marker for NLE. Since 1987 there have been four reported cases of Ro- and anti-La antibody (La[SS-B])-negative, U1RNP antibody-positive, NLE. Our affected twin, as well as all other infants with U1RNP-positive NLE, had cutaneous lesions similar to those in Ro-positive NLE, although they lacked systemic abnormalities, including cardiac conduction defects. HLA typing of mothers with infants with U1RNP-positive NLE revealed the presence of HLA-DR4, DQw1, or DQw3 phenotypes. Our typing confirms these findings. As with Ro-positive NLE, no distinct HLA associations were demonstrated in the infants. Unlike Ro-positive mothers, all mothers with a U1RNP-positive infant with NLE had connective tissue disease at the time of the diagnosis and had a different spectrum of disease. We describe the clinical, serologic, and immunogenetic findings in the first reported case of U1RNP-positive NLE in dizygotic twins in whom the NLE disease expression was discordant.
新生儿红斑狼疮（NLE）是一种罕见疾病，表现为皮肤损害、心脏传导缺陷或两者皆有，这些症状出现在子宫内或出生后不久。在大约95%的患者中，已检测到抗Ro抗体（Ro[SS-A]），它已成为NLE的血清学标志物。自1987年以来，已有4例Ro和抗La抗体（La[SS-B]）阴性、U1RNP抗体阳性的NLE病例报告。我们的患病双胞胎以及所有其他U1RNP阳性的NLE婴儿，都有与Ro阳性NLE相似的皮肤损害，尽管他们没有包括心脏传导缺陷在内的全身异常。对U1RNP阳性NLE婴儿的母亲进行HLA分型显示存在HLA-DR4、DQw1或DQw3表型。我们的分型证实了这些发现。与Ro阳性NLE一样，在婴儿中未显示出明显的HLA关联。与Ro阳性母亲不同的是，所有U1RNP阳性NLE婴儿的母亲在诊断时都患有结缔组织病，且疾病谱不同。我们描述了第一例双卵双胞胎中U1RNP阳性NLE的临床、血清学和免疫遗传学发现，其中NLE疾病表现不一致。
