Tuberous sclerosis: a presentation of less-commonly encountered stigmata.
Tuberous sclerosis: a presentation of less-commonly encountered stigmata.
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DOI：
10.1046/j.1440-1673.2002.01098.x
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发表时间：
2002-12-01
期刊：
影响因子：
--
通讯作者：
Jadhav, P J
中科院分区：
文献类型：
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作者：
Morris, B S;Garg, A;Jadhav, P J
结节性硬化症复杂的多种表现使这种情况在教科书和医学文献中得到了广泛的回顾。这种情况通常是由于其神经学表现而出现的。骨性红斑，当遇到时，通常是无症状的，不需要特殊的治疗，因为他们的良性。我们提出的情况下，一个年轻的男子与一个缓慢扩大的面部肿胀的整容手术是考虑。从小就有的肿胀，随着时间的推移，已经达到了毁容的程度。迄今为止被认为是孤立的面部畸形，颅骨x线片和CT显示结节性硬化症的神经系统污点。大的小脑错构瘤、毗邻颅骨局灶性肥厚的头皮增生性软组织以及伴随的半面部改变是结节性硬化症不常见的特征。
The protean manifestations of the tuberous sclerosis complex have lent this condition to extensive review in textbooks and in the medical literature. This condition generally presents by virtue of its neurological manifestations. Osseous stigmata, when encountered, are generally asymptomatic and do not require specific treatment owing to their benignity. We present the case of a young man with a slowly enlarging facial swelling for whom cosmetic surgery was considered. The swelling, present since childhood, had in time assumed disfiguring proportions. In what was hitherto considered an isolated facial deformity, a skull radiograph followed by CT revealed neurological stigmata of tuberous sclerosis. A large cerebellar hamartoma, proliferative soft tissue in the scalp adjacent to focal hyperostosis of the calvarium and the accompanying hemifacial changes seen in this patient constitute less commonly described features of tuberous sclerosis.