scholarly journals Spontaneous Pneumothorax with or Without Pulmonary Cysts in Patients Diagnosed with Covid-19 Pneumonia

2021 ◽  
Author(s):  
L.F. Jimenez ◽  
J.L. Galindo Pedraza ◽  
J.R. Lutz Peña ◽  
M.A. Izquierdo ◽  
J.A. Carrillo ◽  
...  
Keyword(s):  
Spontaneous Pneumothorax ◽  
Pulmonary Cysts

scholarly journals Birt–Hogg–Dubé syndrome in Chinese patients: a literature review of 120 families

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Xiaowen Hu ◽  
Guofeng Zhang ◽  
Xianmeng Chen ◽  
Kai-Feng Xu
Keyword(s):  
Spontaneous Pneumothorax ◽  
Delayed Diagnosis ◽  
Clinical Manifestations ◽  
Lower Lobe ◽  
Skin Lesions ◽  
Jiangsu Province ◽  
Chinese Patients ◽  
Renal Tumors ◽  
Pulmonary Cysts ◽  
Exon 11

Abstract Objective To clarify the epidemiological and clinical features of Birt–Hogg–Dubé syndrome (BHDS) in Chinese patients. Methods We 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. Results Twenty 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%). Conclusions Although 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.

Birt-Hogg-Dubé Syndrome in Chinese Patients: A Literature Review of 120 Families

2021 ◽  
Author(s):  
Guofeng Zhang ◽  
Xianmeng Chen ◽  
Kaifeng Xu ◽  
Xiaowen Hu
Keyword(s):  
Spontaneous Pneumothorax ◽  
Delayed Diagnosis ◽  
Clinical Manifestations ◽  
Lower Lobe ◽  
Skin Lesions ◽  
Jiangsu Province ◽  
Chinese Patients ◽  
Renal Tumors ◽  
Pulmonary Cysts ◽  
Exon 11

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, 2006 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.

scholarly journals A novel mutation of the folliculin gene causing Birt–Hogg–Dubé syndrome as rare cause for secondary pneumothorax

2020 ◽  
Vol 2020 (3) ◽  
Author(s):  
Melanie Vogl ◽  
Axel Scheed ◽  
Gernot Seebacher ◽  
Elisabeth Stubenberger ◽  
Bahil Ghanim
Keyword(s):  
Computed Tomography ◽  
Genetic Testing ◽  
Genetic Disease ◽  
Spontaneous Pneumothorax ◽  
Novel Mutation ◽  
Positive Family History ◽  
Renal Neoplasms ◽  
Primary Event ◽  
Computed Tomography Images ◽  
Pulmonary Cysts

Abstract The Birt–Hogg–Dubé syndrome is an orphan genetic disease characterized by the development of renal neoplasms, fibrofolliculomas, pulmonary cysts and spontaneous pneumothoraces. Here, we report on the case of a 21-year-old man presenting with a primary event of a persistent spontaneous pneumothorax. Computed tomography images and a positive family history for pneumothoraces led to the suspicion of Birt–Hogg–Dubé syndrome. Genetic testing then confirmed the suspected clinical diagnosis, however with a mutation that has not yet been reported.

scholarly journals Birt-Hogg-Dubé syndrome presenting with spontaneous pneumothorax and extensive pulmonary cysts in the absence of skin lesions or renal pathology

2019 ◽  
Vol 12 (9) ◽  
pp. e231039
Author(s):  
Kartik Kumar ◽  
Clare Ross
Keyword(s):  
Spontaneous Pneumothorax ◽  
Autosomal Dominant ◽  
Skin Lesions ◽  
Lung Cysts ◽  
Cystic Lung ◽  
Increased Risk ◽  
Renal Tumours ◽  
Pulmonary Cysts ◽  
Dominant Condition ◽  
Bhd Syndrome

Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition which classically manifests with skin lesions such as fibrofolliculomas, pulmonary cysts that predispose to spontaneous pneumothorax and an increased risk of developing renal cell carcinoma. We describe the case of a patient who presented with a spontaneous pneumothorax on a background of multiple lung cysts, in the absence of cutaneous fibrofolliculomas and renal tumours. A germline mutation in the folliculin FLCN gene was subsequently identified, confirming BHD syndrome. Our case highlights the importance of considering a broad differential diagnosis for the cause of a spontaneous pneumothorax in the presence of unexplained cystic lung disease and emphasises the value of maintaining a high index of clinical suspicion for inherited causes of pneumothoraces.

Multiple Chromophobe and Clear Cell Renal Cancer in A Patient Affected by Birt-Hogg-Dubè Syndrome: A Case Report

2016 ◽  
Vol 84 (2) ◽  
pp. 116-120
Author(s):  
Roberto Castellucci ◽  
Michele Marchioni ◽  
Sergio Valenti ◽  
Giuseppe Sortino ◽  
Giulio Borgonovo ◽  
...  
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cancer ◽  
Renal Cell ◽  
Spontaneous Pneumothorax ◽  
Clear Cell ◽  
Renal Tumors ◽  
Kidney Tumors ◽  
Pulmonary Cysts

Objectives Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. The syndrome is linked to mutations in the FLCN gene, which is preferentially expressed in the skin, kidney, and lung. The aim of our paper is to describe a case of multiple bilateral renal cancer in a patient affected by BHDS. Case Presentation Patient subjected to enucleoresection seven kidney tumors discovered right after ultrasound performed for other reasons. Definitive histologic examination were as follows: multifocal type chromophobe renal cell carcinoma and clear cell. After 1 month, the patient was readmitted for spontaneous pneumothorax. After about a year, the patient was again subjected to resection of multiple renal tumors left. Histological examination proved that it was multifocal renal cell carcinoma, clear cell varieties. The genome analysis highlighted positive for mutation c. 1379_1380 of FLCN gene, BHDS gene. Currently, the patient is under close follow-up. After 1 year, the chest computed tomography (CT) confirmed the presence of minute air bubbles scattered on both sides. Instead, the abdominal CT was positive for a small round lesion 6 mm exophytic. Conclusions The BHDS is a rare syndrome whose management is extremely complex both in terms of oncological and functional. Kidney tumors associated with BHDS usually have a favorable clinical course. Present evidence suggests a close follow-up of the carriers of the genetic mutation patients whether or not they have expressed the lesions of disease given the high rate of recurrence of renal lesions.

scholarly journals A Novel FLCN Intragenic Deletion Identified by NGS in a BHDS Family and Literature Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Minghui Cai ◽  
Xinxin Zhang ◽  
Lizhen Fan ◽  
Shuwen Cheng ◽  
Abdukahar Kiram ◽  
...  
Keyword(s):  
Spontaneous Pneumothorax ◽  
Relevant Literature ◽  
Skin Lesions ◽  
Targeted Next Generation Sequencing ◽  
Advantages And Disadvantages ◽  
Intragenic Deletion ◽  
Pulmonary Cysts ◽  
Targeted Ngs ◽  
Atypical Manifestations ◽  
Intragenic Deletions

Birt–Hogg–Dubé syndrome (BHDS, MIM #135150), caused by germline mutations of FLCN gene, is a rare autosomal dominant inherited disorder characterized by skin fibrofolliculomas, renal cancer, pulmonary cysts and spontaneous pneumothorax. The syndrome is considered to be under-diagnosed due to variable and atypical manifestations. Herein we present a BHDS family. Targeted next generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA) revealed a novel FLCN intragenic deletion spanning exons 10-14 in four members including the proband with pulmonary cysts and spontaneous pneumothorax, one member with suspicious skin lesions and a few pulmonary cysts, as well as two asymptomatic family members. In addition, a linkage analysis further demonstrated one member with pulmonary bullae to be a BHDS-ruled-out case, whose bullae presented more likely as an aspect of paraseptal emphysema. Furthermore, the targeted NGS and MLPA data including our previous and present findings were reviewed and analyzed to compare the advantages and disadvantages of the two methods, and a brief review of the relevant literature is included. Considering the capability of the targeted NGS method to detect large intragenic deletions as well as determining deletion junctions, and the occasional false positives of MLPA, we highly recommend targeted NGS to be used for clinical molecular diagnosis in suspected BHDS patients.

scholarly journals Spontaneous pneumothorax, with or without pulmonary cysts, in patients with COVID-19 pneumonia

2021 ◽  
Vol 15 (10) ◽  
pp. 1404-1407
Author(s):  
Javier Leonardo Galindo ◽  
Luisa Fernanda Jiménez ◽  
Juan Ricardo Lutz ◽  
María Alejandra Izquierdo ◽  
Viviana Lucía Rivillas ◽  
...  
Keyword(s):  
Mechanical Ventilation ◽  
Medical Records ◽  
Spontaneous Pneumothorax ◽  
Distress Syndrome ◽  
Invasive Mechanical Ventilation ◽  
Ventilator Weaning ◽  
Radiologic Findings ◽  
Pulmonary Cysts ◽  
Rare Manifestation

Introduction: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) affects mainly the lungs causing pneumonia and complications like acute respiratory distress syndrome. Pneumothorax is a rare manifestation of the disease. This report is a description of a series of patients with COVID-19 and spontaneous pneumothorax, some of them with associated pulmonary cysts. Methodology: Cases were collected retrospectively. We included clinical data from medical records and described radiologic findings. Patients that developed pneumothorax during mechanical ventilation were excluded. Results: Ten cases were included in this report, nine of them were male. The median age of our series was 62 years (IQR = 57-68). The median days since the onset of symptoms until the development of pneumothorax was 27 (IQR = 17-31), most cases developed after the second week of the diagnosis of pneumonia. Two cases required invasive mechanical ventilation, but pneumothorax occurred after ventilator weaning. Three cases showed subpleural pulmonary cysts. Conclusions: Cysts and pneumothorax are rare manifestations of SARS-CoV-2 pneumonia with mechanisms not completely understood. This report highlights the role of CT scan in diagnosis of COVID-19 complications.

scholarly journals A Young Man with Bilateral Spontaneous Pneumothorax

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Liese Lieve Willemien Verhaert
Keyword(s):  
Spontaneous Pneumothorax ◽  
Positive Family History ◽  
Clinical Manifestations ◽  
Sudden Onset ◽  
Renal Tumors ◽  
High Resolution Computed Tomography ◽  
Thoracic Pain ◽  
Pulmonary Cysts ◽  
Lower Lung ◽  
Wide Variability

Case.A 33-year-old male nonsmoker presented with sudden onset of dyspnoea and thoracic pain. Chest radiograph showed a left-sided pneumothorax. Few days later he developed a right-sided pneumothorax. He had a positive family history of pneumothorax. High-resolution computed tomography of the chest showed multiple pulmonary cysts predominantly located in the lower lung regions. We suspected Birt-Hogg-Dubé syndrome (BHD).Conclusion.Birt-Hogg-Dubé syndrome is a rare autosomal dominant inherited genodermatosis and characterised by clinical manifestations including hamartomas of the skin, renal tumors, and pulmonary cysts with spontaneous pneumothorax. BHD is probably underdiagnosed because of the wide variability in its clinical expression. It is important to recognize these patients because of the possibility of developing renal cancer.

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