Hoff M, van Grunsven M F, van de Poel A C, Anders G J
Tijdschr Kindergeneeskd. 1984 Oct;52(5):175-80.
Tuberous sclerosis is a complex syndrome. Recognition of the disease can be very difficult because of its incomplete forms. In this article a new symptom of possibly great diagnostic value is discussed, namely the presence of enamel defects in patients with tuberous sclerosis. For a clear understanding and correct interpretation of enamel defects in general, the role of the odontogenesis, the amelogenesis and the different types of developmental disturbances is explained. A review is given of all published investigations concerning the presence of enamel defects in tuberous sclerosis. The conclusion is that the enamel defects may be of great importance for an early diagnosis as well as for a possible revise of the penetrance and mutation rate of the disease.
结节性硬化症是一种复杂的综合征。由于其不典型的表现形式，对该疾病的识别可能非常困难。本文讨论了一种可能具有重大诊断价值的新症状，即结节性硬化症患者存在牙釉质缺陷。为了全面清晰地理解和正确解读牙釉质缺陷，文中解释了牙齿发生、釉质形成以及不同类型发育障碍的作用。对所有已发表的关于结节性硬化症患者牙釉质缺陷的研究进行了综述。结论是，牙釉质缺陷对于早期诊断以及可能修正该疾病的外显率和突变率可能具有重要意义。
