The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome

Ting Guo; Qinxue Shen; Ruoyun Ouyang; Min Song; Dandan Zong; Zhihui Shi; Yingjiao Long; Ping Chen; Hong Peng

doi:10.21037/atm-20-1129

The clinical characteristics of East Asian patients with Birt-Hogg-Dubé syndrome

Ann Transl Med. 2020 Nov;8(21):1436. doi: 10.21037/atm-20-1129.

Authors

Ting Guo^{1

2

3}, Qinxue Shen^{1

2

3}, Ruoyun Ouyang^{1

2

3}, Min Song^{1

2

3}, Dandan Zong^{1

2

3}, Zhihui Shi^{1

2

3}, Yingjiao Long^{1

2

3}, Ping Chen^{1

2

3}, Hong Peng^{1

2

3}

Affiliations

¹ Department of Respiratory and Critical Care Medicine, The Second Xiangya Hospital of Central-South University, Changsha, China.
² Research Unit of Respiratory Disease, Central-South University, Changsha, China.
³ The Respiratory Disease Diagnosis and Treatment Center of Hunan Province, Changsha, China.

Abstract

Background: Birt-Hogg-Dube (BHD) syndrome is an autosomal dominant disease that has been characterized by skin lesions, multiple pulmonary cysts, spontaneous pneumothorax, and renal tumors, but the patients in Asian countries may show fewer symptoms. We aimed to explore and summarize the clinical features of BHD patients in East Asia to facilitate early diagnosis and timely interventions.

Methods: We collected and analyzed the clinical data of patients diagnosed with BHD in our hospital by reviewing medical records. We performed a systematic literature search regarding the presenting clinical features in BHD patients from China, Japan, and Korea and then reviewed the publications that were identified.

Results: In our hospital, 10 patients were diagnosed with BHD from April 2015 to September 2019. After reviewing the literature, we recruited 38 articles, including 12, 20, and 6 reports from China, Japan, and Korea, respectively. A total of 166 patients were included in this study, and 100 of them (60.2%) were females. Multiple pulmonary cysts were present in 145 patients (87.3%), and 124 patients (74.7%) had a history of pneumothorax on at least one occasion. Skin biopsy confirmed fibrofolliculomas (FFs) alone in 22 patients (13.3%), trichodiscomas (TDs) alone in 3 patients (1.8%), and both FFs and TDs in 7 patients (4.2%). Renal carcinoma only occurred in 12 (7.2%) patients. The most frequent genetic mutations in East Asian patients were c.1285delC on exon 11 (18.4%), c.1285dupC on exon 11 (18.4%), and c.1347_1353dupCCACCCT on exon 12 (8.2%).

Conclusions: Our findings suggested that pulmonary cysts are the most frequent radiological findings, and pneumothorax is the most common symptom in East Asian patients with BHD, and that skin lesions and kidney involvement are less frequent. To make an early diagnosis and minimize the severity of complications, careful observation, and timely genetic examination of the FLCN gene is essential.

Keywords: Birt-Hogg-Dube syndrome (BHD syndrome); East Asia; pneumothorax; pulmonary cysts.