scholarly journals Characterization of CT scan in Birt-Hogg-Dubé syndrome compared with non-BHD diffuse cysts lung diseases in Chinese Patients

2019 ◽  
Author(s):  
WenShuai Xu ◽  
Zhiyan Xu ◽  
Yaping Liu ◽  
Yongzhong Zhan ◽  
Xin Sui ◽  
...  
Keyword(s):  
Lung Diseases ◽  
Lower Lobe ◽  
Ct Images ◽  
Chinese Patients ◽  
Axial Distribution ◽  
Lung Cysts ◽  
Cystic Lung ◽  
Pulmonary Cysts ◽  
Lower Lung ◽  
Bhd Syndrome

Abstract Background and objective: The purpose of this study was to create a practical CT-based algorithm to differentiate Birt-Hogg-Dubé (BHD) syndrome from other diffuse cystic lung diseases (DCLD). Methods: The study was a retrospective review of the CT images of 18 patients with BHD syndrome, 18 patients with LAM, and 16 patients with NBNL (non-BHD and non-LAM) DCLD patients. On the basis of the data collected, the CT images were reviewed again to evaluate the characteristics (size, number, distribution, morphology) of pulmonary cysts. Results: Lower lung–predominant cysts were prone to be found in patients with BHD syndrome than in patients with LAM, but there is no difference between BHD and NBNL DCLD group. In the axial distribution, 9 of 18 patients in BHD-group had cysts predominance near the mediastinum, relatively, all the patients in the non-BHD group have diffuse cysts. The appearance of fusiform cysts was easier observed in patients of BHD group. Most patients in BHD-group had less than 50 lung cysts, while all patients in non-BHD group had more than 50 lung cysts. The maximum cyst located in the lower lobe in 16 of 18 patients in BHD-group, while 6 of 18 patients in LAM group and 8 patients in NBNL DCLD group had the maximum cyst in the lower lobe. Conclusion: The pulmonary cysts in patients with BHD tend to be fusiform, less numerous, and have a predominance in the lower lobe and near the mediastinum. These radiologic pulmonary features could assist physicians differentiating BHD from other DCLDs.

scholarly journals Characterization of CT scans of patients with Birt-Hogg-Dubé syndrome compared with those of Chinese patients with non-BHD diffuse cyst lung diseases

2020 ◽  
Author(s):  
WenShuai Xu ◽  
Zhiyan Xu ◽  
Yaping Liu ◽  
Yongzhong Zhan ◽  
Xin Sui ◽  
...  
Keyword(s):  
Lung Diseases ◽  
Lower Lobe ◽  
Ct Images ◽  
Chinese Patients ◽  
Axial Distribution ◽  
Lung Cysts ◽  
Cystic Lung ◽  
Pulmonary Cysts ◽  
Lower Lung ◽  
Bhd Syndrome

Abstract Background and objective: The purpose of this study was to create a practical CT-based algorithm to differentiate Birt-Hogg-Dubé (BHD) syndrome from other diffuse cystic lung diseases (DCLD).Methods: The study was a retrospective review of the CT images of 33 patients with BHD syndrome, 33 patients with LAM, and 23 patients with NBNL (non-BHD and non-LAM) among DCLD patients. On the basis of the data collected, the CT images were reviewed again to evaluate the characteristics (size, number, distribution, and morphology) of pulmonary cysts.Results: Lower lung-predominant cysts were more likely to be found in patients with BHD syndrome than in patients with LAM or in the NBNL DCLD group. In the axial distribution, 18 of 33 patients in BHD group had cysts that were predominantly near the mediastinum, and all the patients in the LAM and NBNL DCLD groups had diffuse cysts. The appearance of fusiform cysts was more easily observed in patients in the BHD group. In total, 58% patients in the BHD group had less than 50 lung cysts, while all patients in the non-BHD group had more than 50 lung cysts. The biggest cyst was located in the lower lobe in 28 of 33 patients in the BHD group, while 11 of 33 patients in LAM group and 10 patients in the NBNL DCLD group had the biggest cyst in the lower lobe.Conclusion: The pulmonary cysts in patients with BHD tended to be fusiform, less numerous and located predominantly in the lower lobe and near the mediastinum. These radiologic pulmonary features could assist physicians in differentiating BHD from other DCLDs.

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.

scholarly journals Diffuse cystic lung diseases: differential diagnosis

2017 ◽  
Vol 43 (2) ◽  
pp. 140-149 ◽  
Author(s):  
Bruno Guedes Baldi ◽  
Carlos Roberto Ribeiro Carvalho ◽  
Olívia Meira Dias ◽  
Edson Marchiori ◽  
Bruno Hochhegger
Keyword(s):  
Lung Diseases ◽  
Laboratory Findings ◽  
Lung Cysts ◽  
Lung Lobe ◽  
Cystic Lung ◽  
Pulmonary Langerhans Cell Histiocytosis ◽  
Pulmonary Cysts ◽  
Lymphocytic Interstitial Pneumonia ◽  
Definition Of ◽  
Airway Walls

ABSTRACT Diffuse cystic lung diseases are characterized by cysts in more than one lung lobe, the cysts originating from various mechanisms, including the expansion of the distal airspaces due to airway obstruction, necrosis of the airway walls, and parenchymal destruction. The progression of these diseases is variable. One essential tool in the evaluation of these diseases is HRCT, because it improves the characterization of pulmonary cysts (including their distribution, size, and length) and the evaluation of the regularity of the cyst wall, as well as the identification of associated pulmonary and extrapulmonary lesions. When combined with clinical and laboratory findings, HRCT is often sufficient for the etiological definition of diffuse lung cysts, avoiding the need for lung biopsy. The differential diagnoses of diffuse cystic lung diseases are myriad, including neoplastic, inflammatory, and infectious etiologies. Pulmonary Langerhans cell histiocytosis, lymphangioleiomyomatosis, lymphocytic interstitial pneumonia, and follicular bronchiolitis are the most common diseases that produce this CT pattern. However, new diseases have been included as potential determinants of this pattern.

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 Loss of FLCN inhibits canonical WNT signaling via TFE3

2019 ◽  
Vol 28 (19) ◽  
pp. 3270-3281 ◽  
Author(s):  
John C Kennedy ◽  
Damir Khabibullin ◽  
Thomas Hougard ◽  
Julie Nijmeh ◽  
Wei Shi ◽  
...  
Keyword(s):  
Wnt Pathway ◽  
Lower Lobe ◽  
Fetal Lung ◽  
Lung Fibroblasts ◽  
Pulmonary Cysts ◽  
Wnt Ligands ◽  
Neonatal Lung ◽  
Canonical Wnt ◽  
Human Fetal Lung ◽  
Bhd Syndrome

Abstract Lower lobe predominant pulmonary cysts occur in up to 90% of patients with Birt–Hogg–Dubé (BHD) syndrome, but the key pathologic cell type and signaling events driving this distinct phenotype remain elusive. Through examination of the LungMAP database, we found that folliculin (FLCN) is highly expressed in neonatal lung mesenchymal cells. Using RNA-Seq, we found that inactivation of Flcn in mouse embryonic fibroblasts leads to changes in multiple Wnt ligands, including a 2.8-fold decrease in Wnt2. This was associated with decreased TCF/LEF activity, a readout of canonical WNT activity, after treatment with a GSK3-α/β inhibitor. Similarly, FLCN deficiency in HEK293T cells decreased WNT pathway activity by 76% post-GSK3-α/β inhibition. Inactivation of FLCN in human fetal lung fibroblasts (MRC-5) led to ~ 100-fold decrease in Wnt2 expression and a 33-fold decrease in Wnt7b expression—two ligands known to be necessary for lung development. Furthermore, canonical WNT activity was decreased by 60%. Classic WNT targets such as AXIN2 and BMP4, and WNT enhanceosome members including TCF4, LEF1 and BCL9 were also decreased after GSK3-α/β inhibition. FLCN-deficient MRC-5 cells failed to upregulate LEF1 in response to GSK3-α/β inhibition. Finally, we found that a constitutively active β-catenin could only partially rescue the decreased WNT activity phenotype seen in FLCN-deficient cells, whereas silencing the transcription factor TFE3 completely reversed this phenotype. In summary, our data establish FLCN as a critical regulator of the WNT pathway via TFE3 and suggest that FLCN-dependent defects in WNT pathway developmental cues may contribute to lung cyst pathogenesis in BHD.

scholarly journals Lung cysts in chronic paracoccidioidomycosis

2013 ◽  
Vol 39 (3) ◽  
pp. 368-372 ◽  
Author(s):  
Andre Nathan Costa ◽  
Edson Marchiori ◽  
Gil Benard ◽  
Mariana Sponholz Araujo ◽  
Bruno Guedes Baldi ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Retrospective Analysis ◽  
Interstitial Pneumonia ◽  
Langerhans Cell Histiocytosis ◽  
Lung Diseases ◽  
Lung Parenchyma ◽  
Langerhans Cell ◽  
Lung Cysts ◽  
Cystic Lung ◽  
Lymphocytic Interstitial Pneumonia

On HRCT scans, lung cysts are characterized by rounded areas of low attenuation in the lung parenchyma and a well-defined interface with the normal adjacent lung. The most common cystic lung diseases are lymphangioleiomyomatosis, Langerhans cell histiocytosis, and lymphocytic interstitial pneumonia. In a retrospective analysis of the HRCT findings in 50 patients diagnosed with chronic paracoccidioidomycosis, we found lung cysts in 5 cases (10%), indicating that patients with paracoccidioidomycosis can present with lung cysts on HRCT scans. Therefore, paracoccidioidomycosis should be included in the differential diagnosis of cystic lung diseases.

scholarly journals Traumatic Pulmonary Pseudocyst Mimicking a Congenital Cystic Lung Disease

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Amjad Kanj ◽  
Hussam Tabaja ◽  
Ayman O. Soubani ◽  
Nadim Kanj
Keyword(s):  
Complete Resolution ◽  
Lung Diseases ◽  
Lower Lobe ◽  
Cystic Lesions ◽  
Rare Entity ◽  
Congenital Pulmonary Airway Malformation ◽  
Thoracic Imaging ◽  
Cystic Lung ◽  
Incorrect Diagnosis ◽  
Congenital Cystic Lung Disease

Traumatic pulmonary pseudocyst (TPP) is a rare entity that occurs following a trauma to the chest. It usually presents as multiple cystic lesions on thoracic imaging. It is treated conservatively and tends to completely resolve after few months. In the absence of striking signs of trauma such as rib fractures, TPP can be mistaken for other cystic lung diseases. We present a case of TPP in a 17-year-old male who was seen for mild hemoptysis after falling off a cliff. The extent of his right lower lobe cystic lesions along with the lack of major signs of trauma led to an incorrect diagnosis of congenital pulmonary airway malformation. The patient was considered for lobectomy, which he refused. Imaging of the chest repeated one and three years later showed complete resolution of the lesions.

New Developments in the Pathogenesis of Pulmonary Cysts in Birt–Hogg–Dubé Syndrome

2020 ◽  
Vol 41 (02) ◽  
pp. 247-255 ◽  
Author(s):  
John C. Kennedy ◽  
Damir Khabibullin ◽  
Yoseph Boku ◽  
Wei Shi ◽  
Elizabeth P. Henske
Keyword(s):  
Lower Lobe ◽  
Protein Kinase Activity ◽  
Loss Of Function ◽  
Cellular Functions ◽  
Autosomal Dominant Disorder ◽  
Positive Regulation ◽  
Cystic Lung ◽  
Pulmonary Manifestations ◽  
Pulmonary Cysts ◽  
Protein Functions

AbstractBirt–Hogg–Dubé (BHD) syndrome is an autosomal dominant disorder caused by germline loss-of-function mutations in Folliculin gene (FLCN). BHD is characterized by lower lobe-predominant pulmonary cysts with risk of pneumothorax, benign skin tumors (fibrofolliculomas), and renal cell carcinoma, often of an unusual chromophobe/oncocytic hybrid histology. The FLCN protein functions in multiple signaling and metabolic pathways including positive regulation of mechanistic target of rapamycin complex 1 (mTORC1) activity via FLCN's GTPase (GAP) activity for Rag C, positive regulation of Wnt signaling (in mesenchymal cells), and negative regulation of TFE3 nuclear localization. Therefore, FLCN-deficient cells are predicted to have reduced mTORC1 and Wnt activity and enhanced TFE3 activity. Folliculin also has functions in autophagy, mitochondrial biogenesis, cell-cell adhesion, 5′ AMP activated protein kinase activity, and other pathways. The specific contributions of these pathways to the lung manifestations of BHD are largely unknown. This review is focused on the pulmonary manifestations of BHD, highlighting selected recent advances in elucidating the cellular functions of FLCN and current hypotheses related to the pathogenesis of cystic lung disease in BHD, including the “stretch hypothesis.” We also discuss important knowledge gaps in the field, including the genetic, cellular and physical mechanisms of cyst pathogenesis, and the timing of cyst initiation, which may occur during lung development.

Birt-Hogg-Dubé Syndrome: A Case Report Describing Sonographic Evaluation of Salivary Gland Oncocytomas

2019 ◽  
Vol 2 ◽  
pp. 5
Author(s):  
Kevin Kapcio ◽  
Kamila Skalski ◽  
Vikram Dogra
Keyword(s):  
Salivary Gland ◽  
Case Report ◽  
Renal Cell ◽  
Autosomal Dominant ◽  
Colonic Polyps ◽  
Sonographic Evaluation ◽  
Parathyroid Adenomas ◽  
Pulmonary Cysts ◽  
Renal Screening ◽  
Bhd Syndrome

Birt-Hogg-Dubé (BHD) syndrome is a rare hereditary disorder associated with autosomal dominant hereditary epithelial carcinomas, in which patients have an increased incidence of renal cell carcinomas, scattered hamartomas, pulmonary cysts, and spontaneous pneumothoraces. Other less common findings include lipomas, parathyroid adenomas, salivary gland tumors, and colonic polyps/tumors. Early diagnosis of BHD can help establish renal screening and reduce mortality by early detection and more effective treatment of renal cell carcinoma. This case report describes the sonographic features of salivary gland oncocytomas found in a patient with BHD.

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