Arun K P, Thomas Joseph P, Jaishankar H P, Abhinethra M S
Department of Oral & Maxillofacial Surgery, Kannur Dental College, Anjarakandy, Kannur, Kerala India.
Department of Oral & Maxillofacial Surgery, Coorg Institute of Dental Sciences, Virajpet, Coorg, Karnataka India.
J Maxillofac Oral Surg. 2015 Mar;14(Suppl 1):161-7. doi: 10.1007/s12663-012-0399-x. Epub 2013 Feb 7.
Though neurofibromatosis type I (NFI) is a fairly common condition, it has a variable expressivity and penetrance. Here we present a series of cases with striking differences in the presentation especially in the oral cavity. NFI, also known as von Recklinghausen's neurofibromatosis, is an autosomal dominantly inherited neurogenetic disorder affecting 1:3000 newborn (Bongiorno et al., Oral Dis 12:125-129, 2006). About 50 % of NFI patients have no family history of the disease. There is no prevalence for gender or race in NFI. Expressivity in NFI is tremendously variable, but subtle phenotypic patterns may exist within subgroups of affected patients. Furthermore, 50 % of cases are sporadic and arise from germ cell mutation (Bongiorno et al., Oral Dis 12:125-129, 2006). The precise constellation of findings in any one individual is extremely variable, both within a family and between different families (Batsakis, Tumors of the head and neck: clinical and pathological considerations, 2nd edn. Williams and Wilkins, Baltimore, pp 313-333, 1979). Only 4-7 % of patients affected by neurofibromatosis exhibit oral manifestations (Güneri et al., Turk J Pediatr 48(2):155-158, 2006).
虽然I型神经纤维瘤病（NFI）是一种相当常见的病症，但其表现度和外显率具有变异性。在此，我们展示了一系列在表现上存在显著差异的病例，尤其是在口腔方面。NFI，也被称为冯雷克林霍增氏神经纤维瘤病，是一种常染色体显性遗传的神经遗传性疾病，发病率为1:3000新生儿（Bongiorno等人，《口腔疾病》12:125 - 129，2006年）。约50%的NFI患者无该病家族史。NFI在性别或种族上无患病率差异。NFI的表现度差异极大，但在受影响患者的亚组中可能存在细微的表型模式。此外，50%的病例是散发性的，由生殖细胞突变引起（Bongiorno等人，《口腔疾病》12:125 - 129，2006年）。在任何一个个体中，确切的症状组合差异极大，无论是在一个家族内部还是不同家族之间（Batsakis，《头颈部肿瘤：临床与病理考量》，第2版。威廉姆斯与威尔金斯出版社，巴尔的摩，第313 - 333页，1979年）。只有4 - 7%的神经纤维瘤病患者有口腔表现（Güneri等人，《土耳其儿科学杂志》48(2):第155 - 158页，2006年）。
