Nallanchakrava Srinivas, Mallela Manoj Kumar, Jeenepalli V Shiva Kumar, Niharika H M
Department of Pedodontics and Preventive Dentistry, Panineeya Institute of Dental Sciences and Research Centre, Hyderabad, Telangana, India.
J Oral Maxillofac Pathol. 2020 Feb;24(Suppl 1):S106-S109. doi: 10.4103/jomfp.JOMFP_35_20. Epub 2020 Feb 28.
Neurofibromatosis type 1 (NF-1) or von Recklinghausen's disease is a rare genetic disorder characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas). Head-and-neck neurofibroma is generally located in the soft tissue. Here, we present a case of a 12-year-old girl with NF-1. The disease started in childhood with the appearance of multiple hyperpigmented skin macules. The girl presents generalized freckling and café au lait spots throughout the body and a diffused swelling measuring about 4 cm × 3 cm, extending from the right maxillary hard palate region to the midpalate. The diagnosis of NF-1 was made according to the presence of two or more diagnostic criteria of the National Institute of Health Consensus Development Conference. No recurrence was observed in a 15-month follow-up after extensive surgical ablation.
1型神经纤维瘤病（NF-1）或冯·雷克林豪森病是一种罕见的遗传性疾病，其特征是神经和皮肤出现多个非癌性（良性）肿瘤（神经纤维瘤）。头颈部神经纤维瘤通常位于软组织中。在此，我们报告一例12岁患有NF-1的女孩。该病始于童年，出现多个色素沉着过度的皮肤斑疹。该女孩全身出现泛发性雀斑和牛奶咖啡斑，以及一个从右上颌硬腭区域延伸至腭中部、大小约4厘米×3厘米的弥漫性肿胀。根据美国国立卫生研究院共识发展会议的两项或更多诊断标准做出了NF-1的诊断。在广泛手术切除后的15个月随访中未观察到复发。
