Epidemiology and clinical features of Birt-Hogg-Dubé syndrome: A nationwide population-based study in South Korea

Park, Hyung; Kim, Ye‐Jee; Kim, Min-Ju; Kim, Ho Cheol

doi:10.1371/journal.pone.0269358

Cited by 7 publications

(9 citation statements)

References 28 publications

(44 reference statements)

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“…We systematically reviewed previous studies in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, including six case reports [ 14 , 15 , 16 , 17 , 18 , 19 ] and four original articles [ 5 , 6 , 7 , 9 ] ( Figure 1 ). Almost all studies enrolled BHD subjects from specific institutions.…”

Section: Resultsmentioning

confidence: 99%

“…Almost all studies enrolled BHD subjects from specific institutions. However, a study by Park et al (2022) [ 6 ] enrolled patients with BHD by using nationwide claims data using Disease-10 codes, which may have resulted in an overlap of some subjects with those in other studies [ 6 ]. In total, 45 patients with BHD (except for those included in the study by Park et al (2022) [ 6 ]) were included in the analysis.…”

Section: Resultsmentioning

confidence: 99%

“…A prospective study of six patients with BHD conducted by the current authors showed that the participants did not present with typical skin and renal lesions [ 5 ]. Another recent South Korean study reported a relatively low incidence of skin and renal lesions in patients with BHD [ 6 , 7 ]. Recent studies have reported less frequent skin and kidney involvement in the symptoms of BHD subjects in East Asia [ 8 ].…”

Section: Introductionmentioning

confidence: 99%

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Outstanding Characteristics of Birt–Hogg–Dube Syndrome in Korea

et al. 2023

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Birt–Hogg–Dube (BHD) is a rare genetic disorder characterized by multiple lung cysts, typical skin manifestations, and renal tumors. We prospectively enrolled thirty-one subjects from four South Korean institutions with typical lung cysts, and next-generation sequencing was conducted. We prospectively enrolled thirty-one subjects from four Korean institutions with typical lung cysts. Next-generation sequencing was performed to investigate mutations in the following genes: FLCN, TSC1, TSC2, CFTR, EFEMP2, ELN, FBLN5, LTBP4, and SERPINA1. BHD was diagnosed in 11 of the 31 enrolled subjects (35.5%; FLCN mutations). Notably, we identified three novel mutations (c.1098G>A, c.139G>T, and c.1335del) that have not been previously reported. In addition to FLCN mutations, we also observed mutations in CFTR (16.1%), LTBP4 (9.7%), TSC2 (9.7%), TSC1 (3.2%), ELN (3.2%), and SERPINA1 (3.2%). According to a systematic review of 45 South Korean patients with BHD, the prevalence of pneumothorax (72.7%) was greater in South Korea than in the rest of the world (50.9%; p = 0.003). The prevalence of skin manifestations (13.6%) and renal tumors (9.1%) was lower in Korea than in the rest of the world, at 47.9% [p < 0.001] and 22.5% [p = 0.027], respectively). This study confirmed a significant prediction model for BHD based on age, number of lung cysts (>40), and maximal diameter of lung cysts (>2 cm) regardless of skin manifestations and renal tumors. Importantly, three novel mutations (c.1098G>A, c.139G>T, and c.1335del) were identified. In conclusion, South Korean patients with BHD display characteristics that are different from those observed in patients of other nationalities. Detailed characterization of lung cysts is needed to define BHD, especially in South Korea, even if patients do not present with skin or renal lesions.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Outstanding Characteristics of Birt–Hogg–Dube Syndrome in Korea

et al. 2023

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“…This disorder is characterized by benign skin hamartomas on the head and neck; pulmonary cysts, spontaneous pneumothoraces, and an increased risk of renal cancer 11 . The incidence of BHD syndrome is still unknown but more than a hundred families have been identified worldwide 12 .…”

Section: Discussionmentioning

confidence: 99%

Folliculin gene-negative Birt-Hogg-Dube syndrome: a case report

Dwikat,

Azar,

Rabayah

et al. 2024

Annals of Medicine &Amp; Surgery

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Introduction and Importance: Birt-Hogg-Dube (BHD) is a rare genetic disorder that results from a mutation in the folliculin (FLCN) gene. Manifestations include pulmonary cysts, fibrofolliculomas, renal tumors, and pneumothoraces. Genetic testing can be used to confirm the diagnosis when suspected. BHD syndrome is diagnosed in patients with negative FLCN gene results using diagnostic criteria. Case Presentation: A male in his twenties presented with recurrent pneumothoraces. Physical examination revealed bumps on his face and upper body. Chest CT scan revealed cystic lesions. Blood tests, ESR, and CRP levels were unremarkable. Punch skin biopsy revealed fibrofolliculomas. Genetic testing for the FLCN mutation returned negative. His history, physical exam, imaging, and histopathology suggested BHD syndrome despite having negative family history and genetic analysis. Eventually, the patient was diagnosed with FLCN gene-negative BHD syndrome. Clinical Discussion: More than a hundred families have been identified to have BHD worldwide. There are a few cases in the literature describing patients phenotypically presenting with BHD despite having negative genetic analysis. One study in Japan found 16 out of 157 individuals having clinical presentation of BHD with no mutations. Also, decreased expression of the FLCN mRNA may lead to BHD. Conclusion: BHD syndrome can present with negative FLCN gene mutation; however, patients must meet the known diagnostic criteria such as criteria made by Menko et al., Gupta et al., and Schmidt et al. in order to have a diagnosis of BHD syndrome. Also, qualitative decrease of FLCN with absence of mutations may also lead to BHD.

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“…In contrast, skin lesions were only confirmed in 25% of the patients. Another analysis of 26 Korean patients showed that 65.4% had at least one pneumothorax, whereas only 16% had fibrofolliculoma [ 10 ]. Similarly, 73.5% of 287 Chinese BHD syndrome patients presented with pneumothorax while skin lesions occurred only in 22.3% [ 11 ].…”

Section: Discussionmentioning

confidence: 99%