Izzetti Rossana, Minuti Filippo, Pucci Angela, Cinquini Chiara, Barone Antonio, Nisi Marco
Department of Surgical Pathology, Medicine, Molecular and Critical Area, University of Pisa, Via Roma 67, 56126 Pisa, Italy.
Dental Biomaterials Research Unit (d-BRU), University of Liege, B-4020 Liege, Belgium.
Diagnostics (Basel). 2025 Jun 18;15(12):1554. doi: 10.3390/diagnostics15121554.
Amelanotic melanocytic nevi of the oral cavity are uncommon lesions that often present a diagnostic challenge for clinicians, primarily due to their nonspecific clinical appearance and the broad spectrum of possible differential diagnoses. These lesions can mimic a variety of benign and malignant conditions, requiring precise histopathological confirmation. The primary objective of this article is to present a comprehensive case report-tracing the course from initial presentation through diagnostic workup to final diagnosis-and to provide an overview of the current literature on oral amelanotic melanocytic nevi. We report the case of a 27-year-old female who presented with a small, exophytic mass located in the anterior mandibular gingival region. The lesion was asymptomatic and lacked pigmentation, adding to the diagnostic uncertainty. A range of differential diagnoses was considered, including pyogenic granuloma, peripheral ossifying fibroma, and squamous cell carcinoma. Due to the lesion's limited size and accessibility, an excisional biopsy was performed under local anesthesia. Histopathological examination revealed an amelanotic melanocytic nevus, a rare variant characterized by the absence of melanin pigment, further complicating the clinical impression. The diagnosis was confirmed through immunohistochemical staining, which demonstrated melanocytic markers consistent with a nevus. The patient was followed up with for six months postoperatively, with no evidence of recurrence or malignant transformation. This case highlights the critical role of biopsy in achieving a definitive diagnosis, especially in lesions with atypical clinical presentations. It also underscores the importance of considering amelanotic melanocytic nevi in the differential diagnosis of nonpigmented oral lesions, as well as maintaining vigilance regarding the rare possibility of amelanotic melanoma.
口腔无色素性黑素细胞痣是一种罕见的病变，常常给临床医生带来诊断挑战，主要是因为其非特异性的临床表现以及广泛的可能鉴别诊断范围。这些病变可模仿多种良性和恶性疾病，需要精确的组织病理学确诊。本文的主要目的是呈现一份全面的病例报告——追溯从最初就诊到诊断检查再到最终诊断的过程——并概述当前关于口腔无色素性黑素细胞痣的文献。我们报告一例27岁女性病例，该患者下颌前牙区牙龈出现一个小的外生性肿物。病变无症状且无色素沉着，这增加了诊断的不确定性。考虑了一系列鉴别诊断，包括化脓性肉芽肿、外周骨化性纤维瘤和鳞状细胞癌。由于病变尺寸有限且易于接近，在局部麻醉下进行了切除活检。组织病理学检查显示为无色素性黑素细胞痣，这是一种罕见的变异型，其特征是缺乏黑色素，这进一步使临床印象复杂化。通过免疫组织化学染色确诊，该染色显示与痣一致的黑素细胞标志物。患者术后随访6个月，无复发或恶变证据。该病例突出了活检在获得明确诊断中的关键作用，特别是在具有非典型临床表现的病变中。它还强调了在无色素口腔病变的鉴别诊断中考虑无色素性黑素细胞痣的重要性，以及对无色素性黑色素瘤罕见可能性保持警惕的重要性。
