Department of Dermatology, Graduate School of Medicine, Osaka University, Suita, Osaka, Japan.
PLoS One. 2013 May 17;8(5):e63910. doi: 10.1371/journal.pone.0063910. Print 2013.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with multi-system involvement and variable manifestations. There has been significant progress in TSC research and the development of technologies used to diagnose this disorder. As a result, individuals with mild TSC are now being diagnosed, including many older adults who have not developed seizures or cognitive abnormalities. We conducted a statistical analysis of the frequency of TSC manifestations in a population of Japanese adults and children, comparing our findings with historical data. The chi-square test was used to examine the frequency of each manifestation by age. A total of 166 outpatients at the Department of Dermatology of Osaka University Hospital during the period from January 2001 to March 2011 were included in the study. Compared to previous reports, the frequency of neurologic manifestations (excepting autism) was lower in this cohort, and the frequency of skin manifestations (excepting hypomelanotic macules) was higher in this cohort. The frequencies of pulmonary lymphangioleiomyomatosis and renal manifestations were not significantly different from those previously reported. Regarding the association of each manifestation with age, the frequency of neurologic manifestations (excepting subependymal giant cell astrocytoma) was significantly higher in younger patients than in older patients. The frequency of skin manifestations and renal angiomyolipoma were significantly higher in older patients than in younger patients. Because of their high frequency and visibility, skin manifestations are useful in the diagnosis of TSC. Moreover, uterine perivascular epithelioid cell tumor was also characterized as a new findings associated with TSC.
结节性硬化症复合征（TSC）是一种常染色体显性遗传病，涉及多系统，表现多样。在 TSC 的研究和用于诊断该疾病的技术的开发方面已经取得了重大进展。因此，现在可以诊断出轻度 TSC 的个体，包括许多没有出现癫痫发作或认知异常的老年人。我们对日本成年人和儿童人群中 TSC 表现的频率进行了统计分析，并将我们的发现与历史数据进行了比较。采用卡方检验按年龄检查每种表现的频率。本研究共纳入了 2001 年 1 月至 2011 年 3 月期间在大阪大学医院皮肤科就诊的 166 名门诊患者。与以往的报告相比，该队列中神经表现（自闭症除外）的频率较低，皮肤表现（除色素减退性斑外）的频率较高。肺淋巴管平滑肌瘤病和肾脏表现的频率与以前报道的无显著差异。关于每种表现与年龄的关系，年轻患者的神经表现（室管膜下巨细胞星形细胞瘤除外）频率明显高于老年患者。皮肤表现和肾血管平滑肌脂肪瘤在老年患者中的频率明显高于年轻患者。由于其高频率和可见性，皮肤表现有助于 TSC 的诊断。此外，子宫血管周上皮样细胞肿瘤也被认为是与 TSC 相关的新发现。
