结节性硬化症与克-特-韦综合征。一个个体中两种完全性母斑病的关联。

Troost B T, Savino P J, Lozito J C

J Neurol Neurosurg Psychiatry. 1975 May;38(5):500-4. doi: 10.1136/jnnp.38.5.500.

Tuberous sclerosis and Klippel-Trenaunay-Weber (KTW) syndromes are phakomatoses which are believed to be inherited separately. A 41 year old woman presented with the classic features of tuberous sclerosis: adenoma sebaceum, mental retardation, and seizures. In addition, the diagnostic triad of KTW involved the left lower limb: cutaneous naevi, a vascular anomaly, and osteohypertrophy. Arteriography documented the presence of visceral tumours and an arteriovenous malformation of the leg. This is the first reported association of the fully-developed symptomatology of tuberous sclerosis and KTW in one person.

结节性硬化症和克-特-韦综合征（KTW）是错构瘤病，被认为是分别遗传的。一名41岁女性表现出结节性硬化症的典型特征：皮脂腺瘤、智力迟钝和癫痫发作。此外，KTW的诊断三联征累及左下肢：皮肤痣、血管异常和骨质肥大。动脉造影显示存在内脏肿瘤和腿部动静脉畸形。这是首次报道一个人同时出现完全发展的结节性硬化症和KTW症状。