Family History Of Pneumothorax Research Articles

Progression of pulmonary cysts in Birt-Hogg-Dubé syndrome: longitudinal thoracic computed tomography study with quantitative assessment

BackgroundBirt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder characterized by fibrofolliculomas, renal tumors, pulmonary cysts, and recurrent pneumothorax. Pulmonary cysts are the cause of recurrent pneumothorax, which is one of the most important factors influencing patient quality of life. It is unknown whether pulmonary cysts progress with time or influence pulmonary function in patients with BHD syndrome. This study investigated whether pulmonary cysts progress during long-term follow-up (FU) by using thoracic computed tomography (CT) and whether pulmonary function declines during FU. We also evaluated risk factors for pneumothorax in patients with BHD during FU.MethodsOur retrospective cohort included 43 patients with BHD (25 women; mean age, 54.2 ± 11.7 years). We evaluated whether cysts progress by visual assessment and quantitative volume analysis using initial and serial thoracic CT. The visual assessment included the size, location, number, shape, distribution, presence of a visible wall, fissural or subpleural cysts, and air-cuff signs. In CT data obtained from a 1-mm section from 17 patients, the quantitative assessment was performed by measuring the volume of the low attenuation area using in-house software. We evaluated whether the pulmonary function declined with time on serial pulmonary function tests (PFT). Risk factors for pneumothorax were analyzed using multiple regression analysis.ResultsOn visual assessment, the largest cyst in the right lung showed a significant interval increase in size (1.0 mm/year, p = 0.0015; 95% confidence interval [CI], 0.42–1.64) between the initial and final CT, and the largest cyst in the left lung also showed significant interval increase in size (0.8 mm/year, p < 0.001, 95% CI; -0.49–1.09). On quantitative assessment, cysts had a tendency to gradually increase in size. In 33 patients with available PFT data, FEV1pred%, FEV1/FVC, and VCpred% showed a statistically significant decrease with time (p < 0.0001 for each). A family history of pneumothorax was a risk factor for the development of pneumothorax.ConclusionsThe size of pulmonary cysts progressed over time in longitudinal follow-up thoracic CT in patients with BHD, and pulmonary function had slightly deteriorated by longitudinal follow-up PFT.

Actualización del neumotórax

Pneumothorax is the presence of air in the pleural space, which produces an increase in transmural pressure and consequently leads to lung collapse. Although the causes of pneumothorax are unknown, risk factors include male gender, tall stature, smoking, and a family history of pneumothorax. The magnitude of the clinical manifestations varies from remaining asymptomatic to threatening the life of the patient. The diagnosis is confirmed by chest X-ray and treatment depends on the severity of the symptoms, its volume and the clinical characteristics of the patient. The goal of treatment is to re-expand the potentially collapsed lung to its original capacity and prevent recurrences.

Clinical and Genetic Comparison of Birt-Hogg-Dubé Syndrome (Hornstein-Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases.

BackgroundBirt–Hogg–Dubé syndrome (BHD), also named Hornstein–Knickenberg syndrome, is a rare autosomal dominant disease characterized by lung cysts, recurrent pneumothoraxes, renal cell carcinoma and skin fibrofolliculomas.PurposeThis study summarizes the clinical and genetic information of Chinese BHD patients from all available reported cases and explores the relationship between the clinical and genetic spectrum in the hope of improving the prognosis of Chinese BHD patients.MethodsRelative studies were collected by searching PubMed, Cochrane Library, Embase, OVID medicine, SinoMed, Web of Science, China National Knowledge Infrastructure, Wanfang Data and China Hospital Knowledge Database from January 1, 1977 to December 31, 2021. The search strategy included the following term keys: (Birt–Hogg–Dubé syndrome OR Hornstein-Kinckenberg syndrome OR familial pulmonary cysts OR familial spontaneous pneumothorax OR fibrofolliculomas OR trichodiscomas OR inherited renal cancer syndromes OR FLCN) AND (Chinese OR China).ResultsIn total, 287 Chinese patients from 143 families described in 31 references were included in this article. Chinese BHD patients tended to present more pulmonary symptoms but fewer skin lesions and renal malignancies, which appeared to be atypical when compared with Caucasian patients. The FLCN mutation spectrum among Chinese BHD patients was established with the mutational hot spot c.1285depC/delC as the most frequent mutation. In addition, this mutation spectrum also showed some differences from other races, with a relatively frequent large deletion c.872–429_1740+1763del (exon 9–14 deletion) reported only in Chinese individuals but no observation of the two mutational hot spots found in Japanese individuals. We also attempted to establish potential pheno-genotype correlations in Chinese BHD patients, but the results were negative.ConclusionTo improve the prognosis of BHD patients, physicians need to increase their awareness of BHD by focusing on the family history of pneumothorax as well as skin lesions in patients with lung cysts and promptly advising patients on genetic sequencing.

Two families with Birt-Hogg-Dubé syndrome:case report and literature review

Objective: To improve the awareness of Birt-Hogg-Dubé syndrome. Methods: We performed a retrospective analysis with two families of Birt-Hogg-Dubé syndrome (BHD syndrome) diagnosed in Department of Respiratory and Critical Care Medicine, Shenzhen People's Hospital from 2020 to 2021. Clinical manifestations, imaging features, diagnosis and gene detection results were summarized. Relative literatures were reviewed in Wanfang Database and PubMed from 2015 to 2021 by using the search terms of "BHD syndrome" "Birt-Hogg-Dubé" "Birt-Hogg-Dubé syndrome", respectively. Results: The probands of both families were female, aged 37 and 34 years respectively. The onset manifestation was pulmonary bullae combined with pneumothorax. Chest computed tomography (CT) imaging showed multiple pulmonary cysts in both lobes, and no skin lesions or renal tumors were found in either case. History of pneumothorax was present in Family 1 while absent in Family 2. The FLCN gene of the two probands and their relatives showed the same mutation site. Totally 12 Chinese literatures and 394 English literatures were retrieved, among which 96 reported lung involvement only. A total of 10 literatures about Chinese population were screened out from the English literatures, and 115 patients, 31 males and 84 females, were included. The incidence of spontaneous pneumothorax was 66.95% (77/115), while a family history of pneumothorax was 88.31%(68/77). The onset age of spontaneous pneumothorax was between 30 and 44 years. The most common mutation site of FLCN was c.1285dup. Conclusions: BHD syndrome in Asian population may only have lung involvement. Patients with pneumothorax and pulmonary cystic lesions should be inquired of the family history. We speculate that there are many underdiagnosed cases in clinical practice.

Birt-Hogg-Dubé syndrome.

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.

CANNABIS-ASSOCIATED SECONDARY SPONTANEOUS PNEUMOTHORAX

SESSION TITLE: Tuesday Fellows Case Report Posters SESSION TYPE: Fellow Case Report Posters PRESENTED ON: 10/22/2019 01:00 PM - 02:00 PM INTRODUCTION: Cannabis is the second most commonly smoked substance in US after tobacco. Marijuana smokers, especially young individuals, tend to develop similar symptoms as tobacco smokers. We present a patient with spontaneous secondary pneumothorax due to apical bullous disease possibly due to daily heavy marijuana usage. CASE PRESENTATION: A 30-year-old man with pmh of traumatic left-sided pneumothorax presented to the ED with one week history of progressive pleuritic chest pain and shortness of breath. He denied any history of trauma. Patient reported history of heavy daily marijuana smoking (more than five blunts a day for six years). He denied tobacco use. Physical examination revealed hyperresonance on percussion along with decreased right lung sounds. Bedside US of chest showed absence of lung sliding. Chest x-ray demonstrated large right-sided pneumothorax. Patient underwent left chest tube placement. Repeat CXR showed resolution of pneumothorax. CT scan of the chest was performed and showed multiple bilateral apical sub-pleural bullae, most prominent at the right apex and along the left upper lobe medially. Patient did not have family history of pneumothorax and no benign skin lesions, arachnodactyly, or joint hyper-mobility. Laboratory analysis showed negative HIV test and normal rheumatoid factor, homo-cysteine, and alpha-1 antitrypsin levels. Patient underwent right-sided VATS, right upper lobe wedge resection and mechanical pleurodesis. The patient was clinically and radio-logically stable following the removal of his chest tube and discharged home with the appropriate follow-up appointments DISCUSSION: The exact mechanism of cannabis-induced bullous lung disease and secondary spontaneous pneumothorax is not well known. The proposed mechanism involves common marijuana smoking techniques: breath holding, Valsalva and Muller’s maneuvers. Prolonged Valsalva maneuver during breath holding following deep inhalation of the smoke pressurizes the air in the lungs and could result in barotrauma to the lungs with rupture of sub pleural blebs. Furthermore, marijuana smoking is associated with significant airway inflammation, mucus hypersecretion and ciliated epithelial cell reduction, changes similar to those seen in tobacco smokers [5]. Diagnosis of cannabis-induced secondary pneumothorax is established by a process of exclusion of other apical bullous lung diseases. This patient was a habitual marijuana smoker who consistently performed breath holding and Valsalva maneuvers; he had no other risk factors for development of bullous disease or pneumothorax. The combination of prolonged breath holding and the toxic components in marijuana led to the barotrauma and pneumothorax. CONCLUSIONS: Penumothorax in young population can be secondary to different etiologies. Our case underlines the importance of maintaining a high index of suspicion for Cannabis as a cause of bullous lung disorder. Reference #1: Wu TC, Tashkin DP, Djahed B, Rose JE. Pulmonary hazards of smoking marijuana as compared with tobacco. N. Engl. J. Med. 1988; 318: 347–51. Reference #2: Tashkin DP, Gliederer F, Rose J et al. Effects of varying marijuana smoking profile on deposition of tar and absorption of CO and δ-9-THC. Pharmacol. Biochem. Behav. 40, 651–656 (1991). Reference #3: Roth MD, Arora A, Barsky SH, Kleerup EC, Simmons M, Tashkin DP. Airway inflammation in young marijuana and tobacco smokers. Am J Respir Crit Care Med 1998;157:928–937. DISCLOSURES: No relevant relationships by Obed Adarkwah, source=Web Response No relevant relationships by dina ahmed, source=Web Response no disclosure on file for Farhad Arjomand; No relevant relationships by Laila Cordero, source=Web Response No relevant relationships by Louis Gerolemou, source=Web Response No relevant relationships by Nabil Mesiha, source=Web Response No relevant relationships by Ankur Mogla, source=Web Response No relevant relationships by jad sargi, source=Web Response

The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome

Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal-dominant inherited disorder characterized by inactivation of the gene Folliculin (FLCN), pulmonary cysts with recurrent spontaneous pneumothorax, dermatological lesions, and an increased risk of developing renal malignancies. Objectives: We aimed to investigate the real prevalence of BHDS and its prevalence among patients with a familial history of pneumothorax. Methods: From July 2014 to December 2016, we consecutively studied all patients with spontaneous pneumothorax and a positive family history for the same condition referring to our Institution. The suspicious cases underwent genetic analysis of the BHDS-causative gene FLCN. FLCN-positive cases were further evaluated with routine blood tests, chest radiography, chest CT, abdominal MRI, and dermatological evaluation. Results: Among 114 patients admitted with spontaneous pneumothorax, 7 patients had a family history of pneumothorax, and 6/7 (85.7%) patients had positive genetic test for FLCN as well as 7/13 family members. Pulmonary cysts were found in all patients with a FLCN-positive genetic test. Most patients (10/13, 76.9%) had tiny pulmonary cysts less than 1 cm in diameter. The vast majority of cysts were intraparenchymal (12/13, 92.3%) and located in lower lobes. Dermatological lesions were found in 7/13 (54%) patients, renal cysts in 4/13 (31%) patients, and renal cancer in 1 (1/13, 7.7%) patient. Conclusions: Although BHDS is considered a rare disease, BHDS underlies spontaneous pneumothorax more often than usually believed, especially whenever a family history of pneumothorax is present. Diagnosis of BHDS is essential to start monitoring patients for the risk of developing renal malignancies.

An 18-year-old man with recurrent pneumothorax since he was 10-year-old

An 18-year-old male patient was referred to the department of pediatric pulmonology with a history of recurrent pneumothorax. Initial pneumothorax occurred at the age of 10. Following diagnosis of congenital lobar emphysema, he had five episodes of pneumothorax and subsequently underwent right-lower lobe anterobasal segmentectomy. Based on thoracic computed tomography (CT) and clinical manifestation, Birt-Hogg-Dube (BHD) syndrome was suspected and confirmed following genetic testing. BHD syndrome is a rare tumor predisposition syndrome first described in 1977. The syndrome is characterized by skin fibrofolliculomas, lung cysts, recurrent spontaneous pneumothorax, and renal cell cancer. The underlying cause is a germline mutation in the folliculin (FLCN) gene located on chromosome 17p11.2. Clinical manifestation usually appears after the age of 20 years. In this case, we report a case of BHD with episodes of recurrent pneumothorax, the first of which occurred at the age of 10 years. Pulmonologists should be aware of this syndrome in patients with a personal and family history of pneumothoraces and CT findings of multiple pulmonary cysts as additional evaluation and testing may be warranted. Pediatr Pulmonol. 2016;51:E41-E43. © 2016 Wiley Periodicals, Inc.

Connect the dots: a rare case of spontaneous haemopneumothorax

A 19-year-old woman presented to her local emergency department with acute chest pain and shortness of breath. She denied any cough, haemoptysis, fever or leg swelling. Her past medical history...

Pulmonary manifestations of Birt-Hogg-Dubé syndrome

Birt-Hogg-Dubé syndrome (BHD) is a rare, autosomal dominant disorder characterized by the development of hair follicle tumors, renal tumors and pulmonary cysts. BHD is caused by heterozygous, predominantly truncating mutations in the folliculin (FLCN) gene located on chromosome 17, which encodes a highly conserved tumor suppressor protein. Although management of renal tumors of low malignant potential is the primary focus of longitudinal care, pulmonary manifestations including cyst formation and spontaneous pneumothorax are among the most common manifestations in BHD. Due to the lack of awareness, there is commonly a delay in the pulmonary diagnosis of BHD and patients are frequently mislabeled as having chronic obstructive lung disease, emphysema or common bullae/blebs. A family history of pneumothorax is present in 35 % of patients with BHD. Certain imaging characteristics of the cysts, including size, basilar and peripheral predominance, perivascular and periseptal localization, and elliptical or lentiform shape can suggest the diagnosis of BHD based on inspection of the chest CT scan alone. Recurrent pneumothoraces are common and early pleurodesis is recommended. A better understanding of role of FLCN in pulmonary cyst formation and long term studies to define the natural history of the pulmonary manifestations of BHD are needed.

Differentiation between Birt–Hogg–Dubé syndrome and lymphangioleiomyomatosis: Quantitative analysis of pulmonary cysts on computed tomography of the chest in 66 females

Since Birt-Hogg-Dubé syndrome (BHDS) and lymphangioleiomyomatosis (LAM) share some clinical manifestations (multiple pulmonary cysts with pneumothorax, renal tumors, and sometimes skin lesions), the differential diagnosis of the two diseases becomes problem especially in female patients. This study aims to quantify pulmonary cysts in computed tomography (CT) of females with BHDS and those with LAM and also to identify the independent parameters for differentiating the two diseases. Fourteen patients with BHDS and 52 with LAM were studied. In CT scans, lung fields were defined as areas with fewer than -200 Hounsfield units (HU) and pulmonary cysts as areas consisting of 10 or more consecutive pixels with fewer than -960 HU. The extent, number, size and circularity of cysts were calculated by using hand-made software and compared between the two diseases. Moreover, the lung fields were divided into six zones and analyzed for the distribution of cysts. Finally, a stepwise discriminant analysis employing quantitative measurements of cysts and clinical features was performed. The two diseases were significantly different in all quantitative measurements of cysts. Stepwise discriminant analysis accepted the following four variables: the family history of pneumothorax within the second degree relatives, lower-medial zone predominance of cysts, diffusing capacity and mean size of cysts in this order. The quantitative characteristics of pulmonary cysts are significantly different between BHDS and LAM. The independent parameters for differentiating the two diseases are the family history of pneumothorax, zonal predominance of cysts, diffusing capacity and size of cysts.

A Young Man with Bilateral Spontaneous Pneumothorax

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.