Familial pneumothoraces – Birt-Hogg-Dubé syndrome. Differentiation with other cystic lung diseases

Opoka, Lucyna; Wakulinski, Jacek; Winek, Jolanta; Bestry, Iwona; Błasińska, Katarzyna; Radzikowska, Elżbieta

doi:10.5114/pjr.2019.89964

Cited by 3 publications

(5 citation statements)

References 12 publications

(11 reference statements)

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“…The prevalence of speci c organ lesions in BHDS differs in relation to the cohorts previously reported by a dermatologist, nephrologist and pulmonologist [1,7,16,18,30,31].…”

Section: Discussionmentioning

confidence: 73%

“…Knowledge about this rare disease and awareness of BHDS by pulmonary physicians are increasing. In Poland, the rst case of BHDS was diagnosed in 2016; subsequently, 14 other cases have been identi ed [29,30]. We noticed a rather long mean diagnosis delay of approximately 20 years between rst symptom appearance and the diagnosis of BHDS.…”

Section: Mutational Analysesmentioning

confidence: 73%

“…subsequently, 14 other cases have been identi ed [29,30]. We noticed a rather long mean diagnosis delay of approximately 20 years between rst symptom appearance and the diagnosis of BHDS.…”

Section: Mutational Analysesmentioning

confidence: 74%

“…Thirteen patients were con rmed by direct sequencing of the FLCN gene and two by clinical diagnosis. Three patients have been reported previously [29,30].…”

Section: Resultsmentioning

confidence: 99%

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Novel Folliculin Gene Mutations in Polish Patients With Birt-hogg-dubé Syndrome

Radzikowska¹,

Lechowicz

Winek

et al. 2021

Preprint

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Birt-Hogg-Dubé syndrome (BHDS) is a rare, autosomal dominant, inherited disease caused by mutations in the folliculin gene (FLCN). The disease is characterised by skin lesions (fibrofolliculomas, trichodiscomas, acrochordons), pulmonary cysts with pneumothoraces and renal tumours. We present the features of Polish patients with BHDS.Materials and MethodsThe first case of BHDS in Poland was diagnosed in 2016. Since then, 15 cases from 10 families have been identified. Thirteen patients were confirmed via direct FLCN sequencing, and two according to their characteristic clinical and radiological presentations.ResultsBHDS was diagnosed in 15 cases (13 women and 2 men) from 10 families. The mean ages at the time of first pneumothorax and diagnosis were 38.4 ± 13.9 and 47.7 ± 13 years, respectively. Five patients (33%) were ex-smokers (2.1 ± 1.37 packyears), and 10 (67%) had never smoked cigarettes. Twelve patients (83%) had a history of recurrent symptomatic pneumothorax. Three patients had small, asymptomatic pneumothoraces, which were only detected upon computed tomography examination. All patients had multiple bilateral pulmonary cysts, distributed predominantly in the lower and middle, peripheral, and subpleural regions of the lungs. Generally, patients exhibited preserved lung function. Skin lesions were seen in four patients (27%), one patient had renal angiomyolipoma, and one had bilateral renal cancer. Different mutations of the FLCN gene were identified (mainly in exon 6), with two novel heterozygous variants: c.490delA p.(Arg164GlyTer13) and c.40delC p.(His14ThrsfTer41). ConclusionsAll analysed patients with BHDS presented with lung lesions and with less frequent skin and renal lesions than previously reported in other populations. In addition, more frequent mutations located in exon 6 were detected, and two novel FLCN gene mutations were identified.

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“…The prevalence of speci c organ lesions in BHDS differs in relation to the cohorts previously reported by a dermatologist, nephrologist and pulmonologist [1,7,16,18,30,31].…”

Section: Discussionmentioning

confidence: 73%

Section: Mutational Analysesmentioning

confidence: 73%

“…subsequently, 14 other cases have been identi ed [29,30]. We noticed a rather long mean diagnosis delay of approximately 20 years between rst symptom appearance and the diagnosis of BHDS.…”

Section: Mutational Analysesmentioning

confidence: 74%

“…Thirteen patients were con rmed by direct sequencing of the FLCN gene and two by clinical diagnosis. Three patients have been reported previously [29,30].…”

Section: Resultsmentioning

confidence: 99%

See 2 more Smart Citations

Novel Folliculin Gene Mutations in Polish Patients With Birt-hogg-dubé Syndrome

Radzikowska¹,

Lechowicz

Winek

et al. 2021

Preprint

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show abstract

“…94 In 30% of patients, pulmonary cysts may be the only abnormality at presentation. 95 Lung cysts have been reported in 83 to 100% of patients with BHD, with spontaneous pneumothorax occurring in 22 to 88% 48,[96][97][98] and recurring in up to 80% of patients. 99 The use of CT has been reported to diagnose small asymptomatic pneumothoraces in 20% (3/15) of BHD patients.…”

Section: Light-chain Deposition Diseasementioning

confidence: 99%

High-Resolution Computed Tomography of Cystic Lung Disease

Kusmirek

Meyer

2022

Semin Respir Crit Care Med

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The cystic lung diseases (CLD) are characterized by the presence of multiple, thin-walled, air-filled spaces in the pulmonary parenchyma. Cyst formation may occur with congenital, autoimmune, inflammatory, infectious, or neoplastic processes. Recognition of cyst mimics such as emphysema and bronchiectasis is important to prevent diagnostic confusion and unnecessary evaluation. Chest CT can be diagnostic or may guide the workup based on cyst number, distribution, morphology, and associated lung, and extrapulmonary findings. Diffuse CLD (DCLDs) are often considered those presenting with 10 or more cysts. The more commonly encountered DCLDs include lymphangioleiomyomatosis, pulmonary Langerhans' cell histiocytosis, lymphoid interstitial pneumonia, Birt–Hogg–Dubé syndrome, and amyloidosis/light chain deposition disease.

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Novel folliculin gene mutations in Polish patients with Birt–Hogg–Dubé syndrome

Radzikowska¹,

Lechowicz²,

Winek³

et al. 2021

Orphanet J Rare Dis

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Background Birt–Hogg–Dubé syndrome (BHDS) is a rare, autosomal dominant, inherited disease caused by mutations in the folliculin gene (FLCN). The disease is characterised by skin lesions (fibrofolliculomas, trichodiscomas, acrochordons), pulmonary cysts with pneumothoraces and renal tumours. We present the features of Polish patients with BHDS. Materials and methods The first case of BHDS in Poland was diagnosed in 2016. Since then, 15 cases from 10 families have been identified. Thirteen patients were confirmed via direct FLCN sequencing, and two according to their characteristic clinical and radiological presentations. Results BHDS was diagnosed in 15 cases (13 women and 2 men) from 10 families. The mean ages at the time of first pneumothorax and diagnosis were 38.4 ± 13.9 and 47.7 ± 13 years, respectively. Five patients (33%) were ex-smokers (2.1 ± 1.37 packyears), and 10 (67%) had never smoked cigarettes. Twelve patients (83%) had a history of recurrent symptomatic pneumothorax. Three patients had small, asymptomatic pneumothoraces, which were only detected upon computed tomography examination. All patients had multiple bilateral pulmonary cysts, distributed predominantly in the lower and middle, peripheral, and subpleural regions of the lungs. Generally, patients exhibited preserved lung function. Skin lesions were seen in four patients (27%), one patient had renal angiomyolipoma, and one had bilateral renal cancer. Different mutations of the FLCN gene were identified (mainly in exon 6), with two novel heterozygous variants: c.490delA p.(Arg164GlyTer13) and c.40delC p.(His14ThrsfTer41). Conclusions All analysed patients with BHDS presented with lung lesions and with less frequent skin and renal lesions than previously reported in other populations. In addition, more frequent mutations located in exon 6 were detected, and two novel FLCN gene mutations were identified.

show abstract

Familial pneumothoraces – Birt-Hogg-Dubé syndrome. Differentiation with other cystic lung diseases

Cited by 3 publications

References 12 publications

Novel Folliculin Gene Mutations in Polish Patients With Birt-hogg-dubé Syndrome

Novel Folliculin Gene Mutations in Polish Patients With Birt-hogg-dubé Syndrome

High-Resolution Computed Tomography of Cystic Lung Disease

Novel folliculin gene mutations in Polish patients with Birt–Hogg–Dubé syndrome

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