Department of Diagnostic Sciences, Texas A&M University School of Dentistry, 3302 Gaston Avenue, Dallas, TX, 75246, USA.
Department of Biomedical Sciences, Texas A&M University School of Dentistry, 3302 Gaston Avenue, Dallas, TX, 75246, USA.
Head Neck Pathol. 2024 Jun 19;18(1):52. doi: 10.1007/s12105-024-01657-y.
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.
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.
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".
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.
Birt-Hogg-Dube 综合征（BHDS）是一种常染色体显性遗传综合征，具有不同的皮肤、肺部和肾脏表现。它通常在第三十年被诊断出来，患者气胸和肾细胞癌的风险增加。
从 1977 年到 2023 年 9 月，在 PubMed 和 Medline 上发表的文章被纳入系统综述。纳入标准适用于描述 BHDS 患者口腔和/或腮腺病变的临床、组织病理学和遗传发现的病例报告、病例系列和回顾性队列研究。
确定了 16 个 BHDS 家族/个体进行分析。患者年龄在 20 至 74 岁之间，平均年龄为 49.4 岁。男性受累占 52.2%，女性占 39.1%。87%的病例报告有皮肤纤维毛囊瘤，47.8%有口腔病变。有 43.5%的患者记录到腮腺肿瘤，其中 30.4%为嗜酸细胞瘤，4.3%为双侧嗜酸细胞瘤，4.3%为“嗜酸细胞瘤癌”。
由于 BHDS 较为罕见，其临床表现可能未被充分认识，尤其是在疾病处于晚期时。而且，一些 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 表现的患者应考虑进行肾脏筛查。
