The cutaneous manifestations of tuberous sclerosis complex

The cutaneous manifestations of tuberous sclerosis complex
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结节性硬化症的皮肤表现

DOI:
10.1002/ajmg.c.31649
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发表时间:
2018
期刊:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
影响因子:
--
通讯作者:
A. Hebert
A. Hebert
中科院分区:
--
文献类型:
--
作者:
Q. Nguyen;Mary D DarConte;A. Hebert

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结节性硬化症 (TSC) 是一种遗传性多系统疾病,其表现各异,主要累及皮肤。这种疾病的诊断在过去两个世纪中不断发展。 2012 年 TSC 标准强调了皮肤病学结果的重要性;口腔皮肤表现占 11 个主要标准中的 4 个,占 6 个次要标准中的 3 个。建议对接受 TSC 初步评估的儿童和成人患者进行详细的临床皮肤病学评估。在评估这些病变和构建鉴别诊断时,综合皮肤病学评估非常有帮助。
Tuberous sclerosis complex (TSC) is a genetic multisystem disease with variable manifestations that can prominently involve the skin. The diagnosis of this disorder has evolved over the past two centuries. The 2012 TSC criteria emphasizes the importance of dermatological findings; orocutaneous manifestations account for 4 of 11 major criterion and 3 of 6 minor criterion. A detailed clinical dermatological evaluation is recommended for both pediatric and adult patients undergoing initial evaluation for TSC. Comprehensive dermatologic evaluation is extremely helpful when assessing these lesions and constructing a differential diagnosis.
结节性硬化症复杂诊断标准更新:2012年iinternation Tuberous硬化症复杂共识会议的建议。
DOI: 10.1016/j.pediatrneurol.2013.08.001
发表时间: 2013-10
影响因子: 3.8
作者:
Northrup H;Krueger DA;International Tuberous Sclerosis Complex Consensus Group
通讯作者: International Tuberous Sclerosis Complex Consensus Group