Buchholzer Samanta, Verdeja Raùl, Lombardi Tommaso
Unit of Oral Medicine and Maxillofacial Pathology, Division of Maxillofacial and Oral Surgery, Department of Surgery, Geneva University Hospitals, 1205 Geneva, Switzerland.
Dermatopathology (Basel). 2021 Jan 7;8(1):17-24. doi: 10.3390/dermatopathology8010003.
Neurofibromatosis type 1 (NF1) is a common genetic disease whose dermatological lesions are at the forefront of its development. Cutaneous manifestations include café au lait spots, intertriginous freckling, and neurofibromas which appear during childhood and adolescence and are part of the clinical criteria to diagnose NF1. However, it is only recently that oral manifestations have been highlighted in many studies as frequently associated to NF1. This article aims to review oral and cutaneous manifestations related to NF1 and to report a case of a 51-year-old male with skin and oral neurofibromas related to NF1. Our patient presented with lesions on the gingiva, a rare localization that takes a hypertrophic form mimicking other various pathological conditions. Although not frequent, malignant transformation in NF1, especially regarding plexiform neurofibromas, is well established. Patients with NF1 therefore have regular follow-ups based on clinical examination, as sarcomatous transformation brings an extremely poor prognosis, recurrences and distant metastasis being common.
1型神经纤维瘤病（NF1）是一种常见的遗传病，其皮肤病变处于疾病发展的前沿。皮肤表现包括牛奶咖啡斑、间擦部位雀斑和神经纤维瘤，这些在儿童期和青春期出现，是诊断NF1的临床标准的一部分。然而，直到最近，许多研究才强调口腔表现常与NF1相关。本文旨在综述与NF1相关的口腔和皮肤表现，并报告一例51岁男性患有与NF1相关的皮肤和口腔神经纤维瘤的病例。我们的患者牙龈出现病变，这是一种罕见的部位，呈肥厚形式，类似其他各种病理状况。虽然不常见，但NF1的恶性转化，尤其是丛状神经纤维瘤的恶性转化，是明确的。因此，NF1患者需根据临床检查进行定期随访，因为肉瘤样转化预后极差，复发和远处转移很常见。
