背景:Birt-Hogg-Dube综合征(BHDS)是一种具有不同皮肤的常染色体显性综合征,肺,和肾脏表现。它通常在生命的第三个十年被诊断出来,患者气胸和肾癌的风险增加。
方法:在PubMed中发表的文章,和Medline从1977年到2023年9月被纳入系统评价。纳入标准适用于病例报告,案例系列,和一项回顾性队列研究,描述临床,组织病理学,以及有口腔和/或腮腺病变的BHDS患者的遗传发现。
结果:确定了16个患有BHDS的家庭/个体进行分析。患者的年龄从20岁到74岁不等,平均49.4年。男性受影响的时间为52.2%,女性,39.1%。87%的病例报告了皮肤纤维囊瘤,和口腔病变记录为47.8%。在43.5%的患者中记录了腮腺肿瘤,其中30.4%为嗜酸细胞瘤,4.3%双侧嗜酸细胞瘤,和4.3%的“嗜酸性细胞癌”。
结论:因为BHDS并不常见,其临床表现谱可能被低估,特别是这种疾病大多在晚期报道。部分BHDS患者可能有嗜酸细胞性腮腺肿瘤和口腔病变。在这方面,出现这些病变和其他BHDS适应症的患者应考虑进行肾脏筛查.
BACKGROUND: Birt-Hogg-Dube syndrome (BHDS) is an autosomal dominant syndrome with different skin, lung, and renal manifestations. It is diagnosed commonly in the third decade of life, and patients have an increased risk for pneumothorax and renal carcinomas.
METHODS: Articles published in PubMed, and Medline from 1977 to September 2023, were included in the systematic review. Inclusion criteria were applied to case reports, case series, and a retrospective cohort study, describing clinical, histopathological, and genetic findings in patients with BHDS with oral and/or parotid lesions.
RESULTS: Sixteen families/individuals with BHDS were identified for analysis. Patients ranged in age from 20 to 74 years, with an average of 49.4 years. Males were affected 52.2% of the time and females, 39.1%. Skin fibrofolliculomas were reported in 87% of cases, and oral lesions were documented in 47.8%. Parotid tumors were documented in 43.5% of patients, 30.4% of which were oncocytomas, 4.3% bilateral oncocytomas, and 4.3% \"oncocytic carcinoma\".
CONCLUSIONS: Because BHDS is uncommon, its spectrum of clinical manifestations may be underrecognized, especially as the disease is mostly reported at advanced stage. And some of the patients with BHDS may have oncocytic parotid tumors and oral lesions. In this regard, patients presenting these lesions and other indications of BHDS should be considered for renal screening.