Grein Cavalcanti Laura, Lyko Karine Fátima, Araújo Renata Lins Fuentes, Amenábar José Miguel, Bonfim Carmem, Torres-Pereira Cassius Carvalho
Universidade Federal do Paraná, Curitiba, Paraná, Brazil.
Pediatr Blood Cancer. 2015 Jun;62(6):1024-6. doi: 10.1002/pbc.25417. Epub 2015 Feb 14.
Fanconi anaemia is a genetic disease characterized by congenital abnormalities, progressive bone marrow failure, and a higher predisposition of oral squamous cell carcinoma. The purpose of this study was to evaluate the prevalence of oral mucosa lesions in patients with Fanconi anaemia without hematopoietic stem cell transplantation (HSCT).
Patients with Fanconi anaemia who had not undergone HSCT was cross-sectional evaluated for the presence of oral lesions.
The sample was composed of 78 male and 60 female patients, with a median age of 9 years. Of the 138 patients, approximately 45% manifested at least one oral mucosa abnormality: 35 patients (25%) presented with traumatic injuries, and 16 (12%) exhibited leukoplakia. The following lesions were observed in low prevalence: aphthous ulcers, atrophic tongue, petechiae and hematomas, gingival hyperplasia, mucoceles, herpes, hyperpigmentation, haemangioma, non-neoplastic proliferative lesions, neutropenic ulcers, papilloma, and candidiasis.
There was a high prevalence of oral leukoplakias in patients with Fanconi anaemia who had not undergone HSCT. It highlights the need of regular oral screenings in this cohort of concern for head and neck malignancies and suggests that oral leukoplakias should be further investigated as part of the syndrome phenotype.
范可尼贫血是一种遗传性疾病,其特征为先天性异常、进行性骨髓衰竭以及口腔鳞状细胞癌的更高易感性。本研究的目的是评估未进行造血干细胞移植(HSCT)的范可尼贫血患者口腔黏膜病变的患病率。
对未接受HSCT的范可尼贫血患者进行横断面评估,以确定口腔病变的存在情况。
样本包括78名男性和60名女性患者,中位年龄为9岁。在这138名患者中,约45%表现出至少一种口腔黏膜异常:35名患者(25%)出现创伤性损伤,16名患者(12%)表现为白斑。以下病变的患病率较低:阿弗他溃疡、萎缩性舌炎、瘀点和血肿、牙龈增生、黏液囊肿、疱疹、色素沉着、血管瘤、非肿瘤性增殖性病变、中性粒细胞减少性溃疡、乳头状瘤和念珠菌病。
未进行HSCT的范可尼贫血患者中口腔白斑的患病率较高。这凸显了对这一关注头颈部恶性肿瘤的队列进行定期口腔筛查的必要性,并表明口腔白斑应作为该综合征表型的一部分进行进一步研究。