Diagnosis of Tuberous Sclerosis-Reply
Diagnosis of Tuberous Sclerosis-Reply
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结节性硬化症的诊断-回复
DOI：
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发表时间：
1983
期刊：
影响因子：
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通讯作者：
S. Cassidy
中科院分区：
文献类型：
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作者：
R. Pagon;S. Cassidy
在答复中——史蒂芬博士在信中提出了几个重要观点。我们一致认为，皮脂腺瘤一词反映的历史意义比组织学准确性更多。血管纤维瘤是更合适的术语。虽然 Steffen 博士表示我们“声称[原文如此]皮脂腺瘤和甲周纤维瘤（即血管纤维瘤）是结节性硬化症的诊断”，但我们实际上自己没有做出这样的具体声明，而是参考了 Gomez 制定和发布的结节性硬化症诊断标准1，这是公认的标准。虽然戈麦斯的这些诊断标准可能被认为是任意的，并且需要进一步研究以获得更好的定义，但我们的先证者中没有一个有模棱两可的发现。所有患者都至少涉及两个主要器官系统；因此，没有人只有血管纤维瘤或甲周纤维瘤。同样，除了四个先前未被怀疑的杂合父母之一之外，其他所有父母都涉及两个或多个器官系统。唯一的
In Reply.— Dr Steffen has raised several important points in his letter. We concur that the term adenoma sebaceum reflects more historical interest than histological accuracy. Angiofibroma is the more appropriate term. While Dr Steffen indicates that we "claim that the [sic] adenoma sebaceum and periungual fibromas (ie, angiofibromas) are diagnostic of the tuberous sclerosis complex," we actually made no such specific statement ourselves but referred to the diagnostic criteria for tuberous sclerosis established and published by Gomez,1 which are the accepted standards. While these diagnostic criteria of Gomez may be viewed as arbitrary and subject to further studies for better definition, none of our probands had equivocal findings. All had involvement of at least two major organ systems; therefore, none had only angiofibromas or periungual fibromas. Similarly, all but one of the four previously unsuspected heterozygous parents had involvement of two or more organ systems. The only