Abstract
ObjectiveTo clarify the epidemiological and clinical features of Birt–Hogg–Dubé syndrome (BHDS) in Chinese patients.MethodsWe identified reports on Chinese patients with BHDS by searching the China Academic Journals Database, Wanfang Chinese Database, and PubMed databases, either in Chinese or English languages published from January 1, 2008 to December 31, 2020. Studies without sufficient clinical data were excluded and cases under 18 years old were excluded.ResultsTwenty papers were included and comprised 120 families with 221 cases. Most families with BHDS were reported from institutions in Beijing (66.7%) and Jiangsu Province (15.8%); 80.8% of cases were reported within the past five years. The average duration from clinical presentation to diagnosis was 9.6 years. The average age was 47.0 ± 13.9 years (range, 18–84 years) and the ratio of male to female was 1:1.6. The most common manifestations of BHDS were multiple pulmonary cysts (92.4%), spontaneous pneumothorax (71.0%), skin lesions (18.1%) and renal tumors (3.6%). Pulmonary cysts were predominantly distributed in the lower lobe on chest CT imaging. Family history of spontaneous pneumothorax was identified in 84.7% of the families and average number of pneumothoraxes was 1.8 (range, 1–6). The FLCN gene mutation c.1285dupC/delC in exon 11 was the most frequent mutation observed (17.4% of patients). The recurrence rate of pneumothorax after conservative treatment (including tube thoracostomy) was 29/41 (71%) while the pneumothorax recurred after surgical treatment (pulmonary bullectomy or pleurodesis) in only 4/37 (11%).ConclusionsAlthough BHDS has been increasingly reported in the recent years, only minority of families were reported from institutions outside of Beijing and Jiangsu Province. The dominant clinical manifestations were pulmonary cysts associated with recurrent pneumothorax, while skin lesions and renal tumors were less commonly reported. Delayed diagnosis along with suboptimal management appear to represent critical challenges for Chinese patients with BHDS.
Highlights
Birt–Hogg–Dubé syndrome (BHDS, OMIM#135150) is a rare autosomal dominant inherited disorder, first described in 1977, featured by lung cysts, spontaneous pneumothorax, skin lesions and renal tumors [1]
Using the study criteria outlined above, 221 cases from 120 families with BHDS were included in the final analysis, which were reported in 20 papers (Table 1) [8,9,10, 12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28]
In 2008, the first 10 families with spontaneous pneumothorax and positive FLCN mutations in the Chinese population were described by a research team at Nanjing University [8]
Summary
Birt–Hogg–Dubé syndrome (BHDS, OMIM#135150) is a rare autosomal dominant inherited disorder, first described in 1977, featured by lung cysts, spontaneous pneumothorax, skin lesions (fibrofolliculomas and trichodiscomas) and renal tumors [1]. It is caused by germline mutations in the folliculin (FLCN) gene, which is located on chromosome 17p11.2 and encodes a 579-amino acid protein with tumor suppressor function, and interacts. Over 600 families with BHD have been reported worldwide in the past 40 years, mainly Caucasians in Europe and USA. Renal tumors develop in up to one-third of individuals with BHDS, with an average age of onset of 50 years reported in Caucasian individuals [6]. In East Asia, Japanese authors reported over 100 families with less frequent skin and renal manifestations [7]
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