Department of Cell Biology and Anatomy, Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, 20520, Turku, Finland.
Department of Dermatology, University of Turku and Turku University Hospital, TE6, Hämeentie 11, P O Box 52, FI-20521, Turku, Finland.
Orphanet J Rare Dis. 2018 Aug 9;13(1):131. doi: 10.1186/s13023-018-0881-8.
Neurofibromatosis type 1 (NF1) is one of the most common inherited syndromes. The literature on craniofacial alterations associated with NF1 has been limited and partially contradictory. This review is based on literature search and the results of the clinical study "Craniofacial and Oral Alterations and Speech in patients with Neurofibromatosis 1", carried out at the University of Turku and Turku University Hospital, Finland in 2006-2012. By the end of 2012, a total of 110 NF1 patients, 54 female and 56 male patients, were examined.A part of our results confirms pre-existing understanding, a part is contradictory to previous considerations based mainly on case reports, and some are entirely novel. Specifically, our results confirmed that enlargement the mandibular canal is the most common abnormality of the mandible in patients with NF1. It should be noted, however, that this finding does not require treatment. Caries was not a major problem. In fact, it was less frequent in NF1 patients compared to reference population. These findings abrogate some previous perceptions. Novel findings of our project include periapical cemental dysplasia in females; short jaws, a finding which usually does not affect bite; and immunohistological analysis of oral mucosal abnormalities. Pioneering study on speech showed that various deviations were very common: As many as 94% of the participants showed some alterations.To conclude, the awareness of craniofacial alterations common in NF1would help avoiding unnecessary and even harmful involvement, e.g. of periapical cemental dysplasia or enlarged mandibular canal which do not require treatment.
神经纤维瘤病 1 型（NF1）是最常见的遗传性综合征之一。关于与 NF1 相关的颅面改变的文献有限，且部分内容相互矛盾。本综述基于文献检索以及在 2006-2012 年于芬兰图尔库大学和图尔库大学医院进行的临床研究“神经纤维瘤病 1 型患者的颅面和口腔改变及语音”的结果。截至 2012 年底，共检查了 110 名 NF1 患者，其中 54 名女性，56 名男性。我们的部分结果证实了先前的认识，部分结果与主要基于病例报告的先前考虑相矛盾，还有一些则是全新的。具体来说，我们的结果证实了下颌管增大是 NF1 患者下颌最常见的异常。然而，应该注意的是，这种发现并不需要治疗。龋齿不是一个主要问题。事实上，NF1 患者的龋齿比参照人群少。这些发现推翻了一些先前的认知。我们项目的新发现包括女性的根尖牙骨质发育不良；短颌，这一发现通常不会影响咬合；以及口腔黏膜异常的免疫组织化学分析。开创性的语音研究表明，各种偏差非常常见：多达 94%的参与者显示出一些改变。总之，对 NF1 中常见的颅面改变的认识有助于避免不必要的甚至有害的干预，例如根尖牙骨质发育不良或不需要治疗的下颌管增大。
