Lossos A, Ben-Hur T, Ben-Nariah Z, Enk C, Gomori M, Soffer D
Department of Neurology, Hadassah University Hospital, Jerusalem, Israel.
J Neurol. 1995 Feb;242(3):164-8. doi: 10.1007/BF00936890.
We report the familial occurrence and apparent autosomal dominant inheritance of Sneddon's syndrome with variable clinical expression. The proband, a 40-year-old woman, presented with livedo reticularis and progressive neurological deterioration following a stroke. The diagnosis was confirmed by cerebral angiogram and skin biopsy, both showing the characteristic findings. Two of the patient's sisters were reported to have been similarly affected in the past. Her mother, two additional siblings and five of her seven children exhibited various vasospastic skin phenomena. Familial aggregation of this disorder may be common and a genetic basis may be involved in its pathogenesis.
我们报告了伴有可变临床表型的Sneddon综合征的家族性发病及明显的常染色体显性遗传。先证者为一名40岁女性，中风后出现网状青斑和进行性神经功能恶化。脑血管造影和皮肤活检确诊了该诊断，两者均显示出特征性表现。据报道，患者的两个姐妹过去曾有类似症状。她的母亲、另外两个兄弟姐妹以及她七个孩子中的五个表现出各种血管痉挛性皮肤现象。这种疾病的家族聚集现象可能很常见，其发病机制可能涉及遗传因素。
