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 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 – a rare case of cystic lung disease

2019 ◽  
Vol 7 (30) ◽  
pp. 51-53
Author(s):  
Jonathan Ram ◽  
Mohammed Zaidan ◽  
Alexander Duarte
Keyword(s):  
Lung Disease ◽  
Spontaneous Pneumothorax ◽  
Rare Case ◽  
Early Recognition ◽  
Disease Entity ◽  
Cystic Lung ◽  
Cystic Lung Disease ◽  
Increased Risk ◽  
Pulmonary Cysts ◽  
Life Threatening

The differential diagnosis of cystic lung disease in adults includes inherited geneticsyndromes and several acquired conditions. Birt–Hogg–Dubé syndrome (BHD) is a rareinherited cystic lung disease associated with an increased risk of renal cell carcinoma,pulmonary cysts, and spontaneous pneumothorax that is not typically included in the differentialdiagnosis. Early recognition of this potentially life threatening syndrome is important and mayhelp prevent complications associated with this disease entity. The presence of spontaneouspneumothorax in this patient population is estimated at 30 %, and 12–34 % of patients withBHD are eventually diagnosed with renal cancer, usually by age 50 years.

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.

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.

scholarly journals Birt–Hogg–Dubé syndrome

2020 ◽  
Vol 29 (157) ◽  
pp. 200042
Author(s):  
Cécile Daccord ◽  
Jean-Marc Good ◽  
Marie-Anne Morren ◽  
Olivier Bonny ◽  
Daniel Hohl ◽  
...  
Keyword(s):  
Index Patient ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Autosomal Dominant Disorder ◽  
Cystic Lung ◽  
Pulmonary Langerhans Cell Histiocytosis ◽  
Renal Tumours ◽  
Pulmonary Cysts ◽  
Chronic Respiratory Insufficiency ◽  
Diagnostic Work

Birt–Hogg–Dubé syndrome (BHD) is a rare inherited autosomal dominant disorder caused by germline mutations in the tumour suppressor gene FLCN, encoding the protein folliculin. Its clinical expression typically includes multiple pulmonary cysts, recurrent spontaneous pneumothoraces, cutaneous fibrofolliculomas and renal tumours of various histological types. BHD has no sex predilection and tends to manifest in the third or fourth decade of life. Multiple bilateral pulmonary cysts are found on chest computed tomography in >80% of patients and more than half experience one or more episodes of pneumothorax. A family history of pneumothorax is an important clue, which suggests the diagnosis of BHD. Unlike other cystic lung diseases such as lymphangioleiomyomatosis and pulmonary Langerhans cell histiocytosis, BHD does not lead to progressive loss of lung function and chronic respiratory insufficiency. Renal tumours affect about 30% of patients during their lifetime, and can be multiple and recurrent. The diagnosis of BHD is based on a combination of genetic, clinical and/or skin histopathological criteria. Management mainly consists of early pleurodesis in the case of pneumothorax, periodic renal imaging for tumour detection, and diagnostic work-up in search of BHD in relatives of the index patient.

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 Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants

2019 ◽  
Vol 14 (1) ◽  
Author(s):  
Keqiang Liu ◽  
Wenshuai Xu ◽  
Xinlun Tian ◽  
Meng Xiao ◽  
Xinyue Zhao ◽  
...  
Keyword(s):  
Clinical Features ◽  
Spontaneous Pneumothorax ◽  
Mutation Screening ◽  
Skin Lesions ◽  
Mrna Splicing ◽  
Mutation Spectrum ◽  
Chinese Patients ◽  
Renal Tumors ◽  
Lung Cysts ◽  
Splicing Pattern

Abstract Background Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disease featured by lung cysts, spontaneous pneumothorax, fibrofolliculomas and renal tumors. The causative gene for BHDS is the folliculin (FLCN) gene and more than 200 mutations have been reported in FLCN, mostly truncating mutations. The aim of this study is to better characterize the clinical features and mutation spectrum of Chinese BHDS patients and to systematically evaluate the effects of non-truncating mutations on mRNA splicing pattern. Methods We enrolled 47 patients from 39 unrelated families with symptoms highly suggestive of BHDS after informed consent and detailed clinical data were collected. Exon sequencing followed by multiplex ligation-dependent probe amplification testing were applied for mutation screening. The effects of non-truncating mutations, including 15 missense mutations and 6 in-frame deletions, on mRNA splicing were investigated by minigene assays. Results A total of 24 FLCN germline variants were found in 39 patients from 31 distinct families. Out of these patients, 100% (36/36) presented with lung cysts and 58.3% (21/36) had experienced spontaneous pneumothorax. Seventeen mutation carriers had skin lesions (47.2%, 17/36) and 9 (30%, 9/30) had kidney lesions including 8 with renal cysts and 1 with renal hamartoma. Among all detected variants 14 (58.3%, 14/24) were novel, including 11 variants classified to be pathogenic and 3 variants of uncertain significance. None of 21 non-truncating mutations changed the mRNA splicing pattern of minigenes. Conclusions We found different clinical features of Chinese BHDS patients compared with Caucasians, with more lung cysts and pneumothorax but fewer skin lesions and malignant renal cancer. Chinese patients with BHDS also have a different mutation spectrum from other races. Non-truncating mutations in FLCN did not disrupt mRNA splicing pattern, in turn supporting the hypothesis that these mutations impair folliculin function by disrupting the stability of the FLCN gene product.

Cowden’s disease: a rare cause of oral papillomatosis

2002 ◽  
Vol 116 (3) ◽  
pp. 221-223 ◽  
Author(s):  
Marissa Botma ◽  
Derrick I. Russell ◽  
Robin A. Kell
Keyword(s):  
Gastrointestinal Tract ◽  
Female Patient ◽  
Autosomal Dominant ◽  
Past History ◽  
Breast Malignancy ◽  
Autosomal Dominant Condition ◽  
Increased Risk ◽  
Cowden’S Disease ◽  
History Of ◽  
Dominant Condition

Cowden’s disease is a rare autosomal dominant condition with characteristic mucocutaneous papillomatous lesions. These lesions are mucocutaneous markers for increased risk of malignancies in the thyroid, breast and the gastrointestinal tract. We discuss the case of a 50-year-old female patient who presented with oral and cutaneous papillomoas and a past history of breast malignancy. Important management aspects of these patients are considered.

scholarly journals Clinical characteristics and genetic analysis of familial spontaneous pneumothorax in China

2021 ◽  
Author(s):  
Yong Feng ◽  
Yi-Shuai Li ◽  
Wei Wei ◽  
Liang Chen ◽  
Meng Li ◽  
...  
Keyword(s):  
Spontaneous Pneumothorax ◽  
Clinical Characteristics ◽  
Autosomal Dominant ◽  
Hereditary Disease ◽  
Sequencing Technology ◽  
Next Generation Sequencing Technology ◽  
Two Generations ◽  
Bhd Syndrome ◽  
Generation Sequencing ◽  
Early Surgical Intervention

Abstract Familial spontaneous pneumothorax (FSP) is a hereditary disease, and Birt-Hogg-Dubé (BHD) syndrome is its main cause. FSP is an autosomal dominant genetic disease related to folliculin (FLCN). The goal of this study was to investigate the clinical characteristics and possible causes of FSP in China compared with those of primary spontaneous pneumothorax (PSP). We reviewed the detailed clinical data of 8 FSP patients in a family and analyzed the clinical characteristics of FSP combined with literatures. The FLCN gene of these 8 FSP patients was sequenced by the next-generation sequencing technology (NGS). The results showed that the clinical features of FSP were significantly different from those of PSP: the incidence of pneumothorax in women is significantly higher, and the age of pneumothorax is later, most of them are two generations, which may be related to heredity. And the effect of surgical treatment is the best. Novel nonsense mutation was found in the 8 patients, and the 8 patients had the same mutation, thus demonstrating the diversity of mutation spots along the gene. Therefore, the FLCN gene screening and early surgical intervention is recommended for FSP patients.

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