scholarly journals Clinical Characteristics and Genetic Analysis of Birt-Hogg-Dubé Syndrome With Congenital Contractural Arachnodactyly in a Family

2021 ◽  
Author(s):  
Jiayong Qiu ◽  
Yao Lou ◽  
Yingwei Zhu ◽  
Min Wang ◽  
Huifang Peng ◽  
...  
Keyword(s):  
Spontaneous Pneumothorax ◽  
Genetic Diseases ◽  
Skin Lesions ◽  
Shortness Of Breath ◽  
Chest Tightness ◽  
Kidney Tumors ◽  
Congenital Contractural Arachnodactyly ◽  
Variation Characteristics ◽  
Hand Deformity ◽  
Bhd Syndrome

Abstract Background Birt-Hogg-Dubé Syndrome (BHD syndrome) and congenital contractural arachnodactyly (CCA) or Beals Hecht Syndrome (BHS) are clinically rare autosomal dominant genetic diseases. In this study, we find an extremely rare family with BHD Syndrome with CCA.Objective To investigate the clinical and genetic variation characteristics of a family with BHD Syndrome with CCA.Methods The patient was examined for chest Computed Tomography (CT), abdominal and heart color ultrasound, rheumatism immune-related indexes, and hand Direct Digital Radiography (DR), and Whole Exome Sequencing (WES) was performed on family members.Results The proband, male, developed symptoms of chest tightness and shortness of breath, accompanied by irritant cough 2 years ago, and then repeated spontaneous pneumothorax four times. Chest CT showed: spontaneous pneumothorax on the right side, emphysema in both lungs, and bullae in both lungs. No manifestations of kidney tumors and skin lesions. His son had a history of pulmonary bullobes and occurred spontaneous pneumothorax twice. He, his mother, and his son were all born with a hand deformity. Sequencing results showed that both the proband and his son were folliculin (FLCN) gene c.1015C>T（p.Gln339Ter） heterozygous variation, Fibrillin 2 gene (FBN2) gene c.3485G>A（p.Cys1162Tyr） heterozygous variation, associated with BHD syndrome and CCA.Conclusion For patients with chest tightness, shortness of breath, recurrent spontaneous pneumothorax, and congenital hand deformity without inducement, genetic testing should be carried out as soon as possible to make a clear diagnosis, which can guide treatment and genetic counseling.

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 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 Spirometry and mannitol bronchial challenge test among firefighters in Bhuj district: a questionnaire based study

2017 ◽  
Vol 4 (5) ◽  
pp. 1434
Author(s):  
Kashyap Buch ◽  
Vinayak Chauhan
Keyword(s):  
Nitric Oxide ◽  
Lung Disease ◽  
Chronic Lung Disease ◽  
Respiratory Symptoms ◽  
Challenge Test ◽  
Shortness Of Breath ◽  
Chest Tightness ◽  
Bronchial Challenge ◽  
Challenge Tests ◽  
Skin Prick Tests

Background: Asthma is a common chronic lung disease that inflames and narrows the airways. It causes recurring period of wheezing, chest tightness, shortness of breath and coughing.Methods: A questionnaire, spirometry, direct and indirect airway challenge tests, exhaled nitric oxide, and skin-prick tests were administered prospectively to 100 out of 120 firefighters employed in Bhuj district, Gujarat, India. Asthma was defined as the combination of respiratory symptoms with airway hyper responsiveness.Results: Twenty out of 100 firefighters (12%) had physician-diagnosed asthma, which could be confirmed in 8 firefighters. In contrast, asthma was diagnosed in 28% (28 of 100 firefighters). Wheezing was the most sensitive symptom for the diagnosis of asthma (sensitivity, 88%; specificity, 90%).Conclusions: Asthma was considerably under diagnosed in firefighters. The combination of a structured symptom questionnaire with a bronchial challenge test allows identifying patients with asthma and should routinely be used in the assessment of active firefighters and may be of help when evaluating candidates for this profession.

Birt-Hogg-Dubé Syndrome: Clinicopathologic Findings and Genetic Alterations

2006 ◽  
Vol 130 (12) ◽  
pp. 1865-1870 ◽  
Author(s):  
Brian P. Adley ◽  
Norm D. Smith ◽  
Ritu Nayar ◽  
Ximing J. Yang
Keyword(s):  
Renal Cell Carcinoma ◽  
Cell Carcinoma ◽  
Renal Cell ◽  
English Literature ◽  
Clinical Manifestations ◽  
Genetic Alterations ◽  
Limited Information ◽  
Kidney Tumors ◽  
Pulmonary Cysts ◽  
Bhd Syndrome

Abstract Context.—Birt-Hogg-Dubé (BHD) syndrome is a rare clinicopathologic condition transmitted in an autosomal dominant fashion. This complex entity is characterized by cutaneous fibrofolliculomas, kidney tumors, pulmonary cysts, and spontaneous pneumothorax. Recently, the gene possibly responsible for the clinical manifestations of BHD syndrome has been cloned and characterized. The few reviews of BHD syndrome found in the English literature mostly focus on the skin lesions or genetics, with limited information on other pathologic changes, particularly the kidney lesions. Objective.—To review the literature on this subject with a special emphasis on BHD syndrome-associated renal pathology as well as recent advances in molecular genetic discovery of the BHD syndrome. Data Sources.—We used all data available after performing a literature search using MEDLINE and searching under the headings “Birt-Hogg-Dubé,” “hybrid oncocytic tumors,” and “folliculin.” Conclusions.—The presence of BHD syndrome should be investigated in any patient with multiple bilateral kidney tumors, especially if the predominant histologic type is chromophobe renal cell carcinoma or the so-called hybrid oncocytic tumor. The genetic alteration for BHD syndrome has been mapped to chromosome 17p12q11, and the gene in this region has been cloned and believed to be responsible for the BHD syndrome. The function of the BHD product, called folliculin, is still unknown, although it is speculated to be a tumor suppressor gene. Numerous mutations have been described in the BHD gene. Studies are ongoing to determine the relationship between the BHD gene and development of sporadic renal cell carcinoma and other lesions.

A 48-Year-Old Woman With Skin Lesions, Renal Masses, and Spontaneous Pneumothorax

CHEST Journal ◽  
2007 ◽  
Vol 131 (2) ◽  
pp. 624-627 ◽  
Author(s):  
Ravi Kalhan ◽  
Anjana V. Yeldandi ◽  
Manu Jain
Keyword(s):  
Spontaneous Pneumothorax ◽  
Skin Lesions ◽  
Renal Masses

48-Year-Old Woman with Acute-Onset Cough, Chest Tightness, and Shortness of Breath

2016 ◽  
Vol 51 (5) ◽  
pp. 592-593
Author(s):  
Rebecca A. Lowy ◽  
Richard Pescatore ◽  
Jillian C. Smith ◽  
Holly A. Bartimus
Keyword(s):  
Acute Onset ◽  
Shortness Of Breath ◽  
Chest Tightness

Exercise, physical activity, and asthma

2017 ◽  
Author(s):  
Helge Hebestreit ◽  
Susi Kriemler ◽  
Thomas Radtke
Keyword(s):  
Physical Activity ◽  
Challenge Test ◽  
Well Being ◽  
Physical Activities ◽  
Shortness Of Breath ◽  
Chest Tightness ◽  
Exercise Challenge ◽  
Typical History ◽  
Children With Asthma ◽  
Exercise Induced

The incidence of asthma in children varies among countries and can be estimated to range between 5% and 20%. Exercise-induced asthma (EIA) is common in patients with asthma but can also occur in some children without asthma. Typical symptoms of EIA include cough, chest tightness, and shortness of breath shortly after exercise. The pathophysiology of EIA is not completely understood, but it has been shown that airway cooling and drying with increased ventilation during exercise and airway re-warming after exercise play a pivotal role. In addition, a lack of physical activity may also contribute to EIA. Regular exercise may increase fitness and psychological well-being but may also positively influence airway inflammation in children with asthma. The diagnosis of EIA is based on the typical history and may be verified by an exercise challenge test. Every child with EIA should be able to engage in all type of physical activities.

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.

Brain tumor-polyposis syndrome: two genetic diseases?

1997 ◽  
Vol 15 (7) ◽  
pp. 2744-2758 ◽  
Author(s):  
F Paraf ◽  
S Jothy ◽  
E G Van Meir
Keyword(s):  
Colorectal Cancer ◽  
Brain Tumor ◽  
Genetic Diseases ◽  
Skin Lesions ◽  
Colorectal Adenomas ◽  
Syndrome Type ◽  
Dna Mismatch ◽  
Replication Errors ◽  
Café Au Lait Spots ◽  
Dna Replication Errors

PURPOSE AND DESIGN This report presents a comprehensive and statistical analysis of the brain tumor-polyposis (BTP) cases referred to as Turcot's syndrome in the literature. RESULTS BTP patients encompass a heterogeneous group that can be classified into two statistically distinct clinical entities based on phenotype of the polyps (P = .0001), presence of colorectal cancer (P = .0001), type of brain neoplasm, ie, glioma or medulloblastoma (P = .0001), presence of skin lesions (P = .0004) and cafe-au-lait spots (P = .0008), as well as consanguinity (P = .0135). CONCLUSION The first entity (BTP syndrome type 1) consists of patients who have glioma and colorectal adenomas without polyposis (non-FAP cases), and their siblings with glioma and/or colorectal adenomas. For these patients, we show that the patient's age at malignant glioma occurrence is less than 20 years (50 to 80 years in the general population), which strongly supports the existence of an underlying genetic cause. The neoplasms of these patients show DNA replication errors, which suggests a relationship with hereditary nonpolyposis colorectal cancer (HNPCC), a disease characterized by germline alterations in DNA mismatch repair genes. The second entity (BTP syndrome type 2) consists of patients with a CNS tumor that occurs in a familial adenomatous polyposis kindred (FAP cases). These patients carry germline mutations in the APC gene, which suggests that mutations in this gene might predispose to brain tumors. Risk analysis shows increased incidence of medulloblastoma in FAP patients, but APC mutations are not found in sporadic glioma or medulloblastoma. Therefore, further investigations should establish whether the occurrence of medulloblastoma in an FAP family represents a variant of FAP.

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