Spontaneous Pneumothorax Research Articles

CT features associated with contralateral recurrence of spontaneous pneumothorax.

Spontaneous pneumothorax recurs in 30 to 54% of patients without surgery. Identifying individuals likely to suffer a recurrence, who might benefit from pre-emptive surgery, is challenging. Previous meta-analysis suggested a relationship between contralateral recurrence and specific computed tomography (CT) findings. We analysed CT images and recurrence rates 243 patients seen by our tertiary referral pneumothorax service. We validated the meta-analysis observation that contralateral lung cysts are associated with a higher risk of contralateral recurrence in younger individuals. Furthermore, we observed the size of contralateral cysts to be associated with increased contralateral recurrence in younger patients. The detection of contralateral lung cysts might therefore help identify younger patients more likely to benefit from pre-emptive surgery.

Trends in incidence of pneumothorax in England before, during and after the COVID-19 pandemic (2017–2023): a population-based observational study

COVID-19 is a risk factor for pneumothorax. The pandemic may have influenced healthcare-seeking behaviour for pneumothorax. This study aimed to investigate recent trends in the incidence of pneumothorax in England. A population-based epidemiological study was conducted using an English national dataset of hospital admissions (Hospital Episode Statistics) from 2017 to 2023. Record-linkage was used to identify multiple admissions per person and co-morbidity. Pneumothoraces co-occurring with COVID-19 were identified by concurrent COVID-19 diagnostic coding. The pre-pandemic (January 2017-February 2020), pandemic (March-2020-February-2021) and post-pandemic periods (March 2021-March 2023) were compared. From 2017 to 2023, there were 72,275 hospital admissions for spontaneous pneumothorax among 59,130 patients. Admissions showed marked variability, peaking in January 2021 when the rate of admissions was about two-thirds higher than that of the pre-pandemic level (Incidence rate ratio [IRR] 1.65, 95% CI: 1.48-1.84). However, when excluding patients with a concurrent COVID-19 diagnosis, the overall trend shifted to a reduction during the pandemic period. Post-pandemic rates were not significantly different from pre-pandemic levels (IRR=0.96, 95% CI: 0.89-1.04). The incidence of spontaneous pneumothorax was significantly higher in males (rate ratio compared to females: 2.29, 95% CI: 2.19-2.39). However, the trends were consistent in both males and females. This study highlights a significant peak in COVID-19 related cases but a corresponding trough in non-COVID-related cases (end 2020, early 2021). Despite a previous report of increasing incidence of (non-COVID-related) hospitalised spontaneous pneumothorax over the long-term between 1968 and 2016, we did not observe any continued increase throughout this study period, prompting further investigation into the impact of recent guidelines. Authors are supported by the NIHR Oxford BRC, Li Ka Shing and Robertson Foundations, MRC, and HDR UK.

Bronchoscopic management in persistent air leak: a narrative review.

Persistent air leak (PAL) represents a challenging medical condition characterized by prolonged air leak from the lung parenchyma into the pleural cavity, often associated with alveolar-pleural fistula or bronchopleural fistula (BPF). The objective of this narrative review is to explore the causes, clinical implications, and the evolving landscape of bronchoscopic treatment options for PAL. The literature search for this review was conducted using databases such as PubMed/MEDLINE, and Scopus databases. Articles published from inception until 28th August, 2023, focusing on studies that discussed the causes, diagnosis, and management strategies for PAL were included. Keywords included bronchoscopic management, bronchopleural fistula, endobronchial valve, sealant, blood patch pleurodesis, spigot, air leak, PAL, management, comparative study. PAL commonly arises from secondary spontaneous pneumothorax, necrotizing pneumonia, barotrauma induced by mechanical ventilation, chest trauma, or postoperative complications. Understanding the underlying etiology is crucial for tailoring effective management strategies. While conventional intercostal drainage resolves the majority of pneumothorax cases, PAL is diagnosed when the air leak persists beyond 5 to 7 days. Prolonged PAL can lead to worsening pneumothorax, respiratory distress, and increased morbidity. Early identification and intervention are essential to prevent complications. Conservative approaches involve close monitoring and supplemental oxygen therapy. These strategies aim to promote natural healing and resolution of the air leak without invasive interventions. Bronchoscopic techniques, such as endobronchial valves (EBVs), sealants, and autologous blood patch (ABP), have emerged as promising alternatives for refractory PAL. These interventions offer a targeted and minimally invasive approach to seal the fistulous connection, promoting faster recovery and reducing the need for surgical interventions. PAL is a clinical challenge, and their management requires a tailored approach based on the underlying cause and severity. Bronchoscopic interventions have shown efficacy in cases of refractory PAL. Early recognition, multidisciplinary collaboration, and a personalized treatment plan are essential for optimizing outcomes in patients with PAL.

Incidence and risk factors for recurrent primary spontaneous pneumothorax after video-assisted thoracoscopic surgery: a systematic review and meta-analysis.

The incidence and risk factors for recurrent primary spontaneous pneumothorax (PSP) after video-assisted thoracoscopic surgery (VATS) remain controversial. A systematic review and meta-analysis were conducted to determine the incidence and risk factors for recurrence of PSP after VATS. A systematic search of PubMed, Web of Science, Embase, and Cochrane Library databases was conducted to identify studies that reported the rate and risk factors for recurrence of PSP after VATS published up to December 2023. The pooled recurrence rate and odds ratio (OR) with 95% confidence interval (CI) were calculated using a random-effects model. In addition, risk factors were similarly included in the meta-analysis, and sources of heterogeneity were explored using meta-regression analysis. A total of 72 studies involving 23,531 patients were included in the meta-analysis of recurrence. The pooled recurrence rate of PSP after VATS was 10% (95% CI: 8-12%). Male sex (OR: 0.61; 95% CI: 0.41-0.92; P=0.02), younger age [mean difference (MD): -2.01; 95% CI: -2.57 to -1.45; P<0.001), lower weight (MD: -1.57; 95% CI: -3.03 to -0.11; P=0.04), lower body mass index (BMI) (MD: -0.73; 95% CI: -1.08 to 0.37; P<0.001), and history of contralateral pneumothorax (OR: 2.46; 95% CI: 1.56-3.87; P<0.001) were associated with recurrent PSP, whereas height, smoking history, affected side, stapling line reinforcement, and pleurodesis were not associated with recurrent PSP after VATS. The recurrence rate of PSP after VATS remains high. Healthcare professionals should focus on factors, including sex, age, weight, BMI, and history of contralateral pneumothorax, that may influence recurrence.

Needle aspiration versus tube thoracostomy in patients with symptomatic primary spontaneous pneumothorax: an updated meta-analysis of randomized controlled trials.

Primary spontaneous pneumothorax (PSP) is an important disease commonly seen in young males. While incidentally diagnosed cases can be managed conservatively, symptomatic patients often necessitate intervention. Chest tube placement (tube thoracostomy) is commonly used, at least in the USA as a primary treatment modality, which requires hospitalization. On the other hand, needle aspiration (NA) has been widely adopted due to simplicity and reported efficacy and safety. No consensus is reached regarding superiority and/or preferred modality, with a lack of guidelines agreement. Therefore, we conducted an updated meta-analysis of randomized controlled trials comparing NA to tube thoracostomy in patients with symptomatic PSP. Prespecified outcomes were immediate success rate, 12-month recurrence rate, post intervention complications rate, and hospital length of stay. We identified and pooled data from six randomized trials, with a total of 759 patients and a median follow up of 12 months. Our analysis showed that NA and tube thoracostomy have similar immediate success rate and 12-month recurrence rate. We also found that NA has less complication rate, need for surgical intervention, and less hospital stays. In conclusion, our review showed that in symptomatic patients with PSP, NA is as effective as tube thoracostomy regarding immediate success rate and 12-month recurrence rate, with the added benefit of less complications rate and need for surgical intervention.

Hereditable Disorders of Connective Tissue in the Emergency Department: A Case Series, Discussion and Proposed Screening Tool

There are over 200 Heritable Disorder of Connective Tissue (HCTDs). These conditions are heterogenous and can present with a multitude of pernicious signs and symptoms. HCTDs conditions are not commonly associated with emergency medicine and their relevance to emergency department presentations frequently goes unrecognised. There is a paucity of formal data on presentations relating to these conditions in emergency medicine, as only life -threatening complications are currently recognised. There is a lack of formal training in medicine on how to recognise the clinical signs and history that could represent a possible HCTD, especially in emergency department contexts. The authors present 7 case studies of patients with known and possible HCTDs who presented with a wide variety of complaints. These included chest pain, syncope, spontaneous arterial dissection, spontaneous pneumothorax, severe dysmenorrhea and dysphagia. The presenting complaints are discussed with relevance to HCTDs and a proposed clinical tool for identification of HCTDs in the Emergency Department. This tool requires validation for use in clinical settings. Further research is required to establish the frequency of problems relating to HCTDs in emergency medicine. Education on HCTDs is recommended. Testing of the clinimetric properties of the proposed screening tools for identification of HCTDs in the emergency department is required

Usefulness of Preoperative Prognostic Nutritional Index in Secondary Spontaneous Pneumothorax

BackgroundThe prognostic nutritional index has been identified as a predictor of postoperative outcomes in various fields. We investigated the usefulness of the prognostic nutritional index as a risk factor for postoperative complications in secondary spontaneous pneumothorax. MethodsIn this retrospective study, patients who underwent surgery for secondary spontaneous pneumothorax were reviewed. The associations among the prognostic nutritional index, body mass index, and performance status were examined, and risk factors for postoperative complications were investigated in a multivariate analysis. In the subgroup analysis, on the basis of the receiver operating characteristics, we divided patients into high– and low–prognostic nutritional index groups and investigated the utility of the prognostic nutritional index for postoperative complications. ResultsOf 91 patients who underwent surgery for secondary spontaneous pneumothorax, 34 patients with postoperative complications were included. The prognostic nutritional index was significantly positively and negatively correlated with body mass index (P < .001) and performance status (P < .001), respectively. Multivariate analysis revealed that a decreased prognostic nutritional index was an independent risk factor for postoperative complications (P = .0048). In the subgroup analysis, the postoperative outcomes, including the duration of chest tube placement (P = .042), hospital stay (P = .0014), complications (P = .0089), and mortality (P = .044), were significantly worse in the low– than in the high–prognostic nutritional index group. ConclusionsThe prognostic nutritional index may be useful for evaluating the severity of secondary spontaneous pneumothorax in preoperative patients and may be a risk for postoperative complications.

Is there a change in the view of treatment for primary spontaneous pneumothorax?: The effect of thoracic CT and autologous blood pleurodesis: a retrospective cohort study.

This study investigated recurrence rates and treatment efficacy based on tomographic findings during a long-term follow-up after primary spontaneous pneumothorax (PSP) treatment. We retrospectively analyzed patients with PSP treated at our hospital between 2003 and 2020. Patients were categorized into 2 groups based on computed tomography (CT) findings: group 1 (no bulla/bleb) and group 2 (bullae-bleb <3 cm). Data on demographics, recurrence, treatment methods, and outcomes were also collected and compared. A total of 251 PSP cases were evaluated, predominantly male (93.6%) with a mean age of 29.23 ± 1.14 years. Most cases (57%) occurred on the right side. Recurrence rates were highest within the first year (77.8%), with the first and second recurrences occurring at rates of 26% and 27.3%, respectively. In group 1 (n = 117), conservative treatment was applied in 15 cases, tube thoracostomy in 81, autologous blood pleurodesis (ABP) in 19, and surgery in 12. Recurrence rates were 46.6%, 21%, 5.3%, and 8.3%, respectively. In group 2 (n = 134), the recurrence rates were 50%, 32.7%, 20%, and 3.1%, respectively (P < .001). No mortality was observed for any patient. The treatment groups included conservative (n = 19), thoracostomy (n = 179), ABP (n = 34), and surgical (n = 44) groups. Recurrence rates were 47.3%, 27.4%, 11.8% (group 1: 5.3%, group 2: 20%, P = .035), and 4.5% (0% vs 6.3%), respectively. ABP effectively reduced recurrence in group 1 PSP patients without bullae or blebs on CT, potentially avoiding surgery. Video-assisted thoracoscopic surgery should be preferred in group 2 cases with bullae or blebs to minimize recurrence. These results underscore the importance of tailoring treatment strategies based on CT findings to optimize PSP management outcomes.

Uniportal versus multiportal video-assisted thoracoscopic surgery for spontaneous pneumothorax

BackgroundMultiportal video-assisted thoracic surgery (mVATS) is the standard approach for the surgical treatment of spontaneous pneumothorax. However, uniportal VATS (uVATS) has emerged as an alternative aiming to minimize surgical morbidity. This study aims to strengthen the evidence on the safety and efficiency of uVATS compared to mVATS.MethodsFrom January 2004 to December 2020, records of patients who had undergone surgical treatment for primary or secondary spontaneous pneumothorax were evaluated for eligibility. Patients who had undergone pleurectomy combined with bullectomy or apical wedge resection via uVATS or mVATS were included. Surgical characteristics and postoperative data were compared between patients who had undergone surgery via uVATS or mVATS. Univariable and multivariable analyses were performed to determine whether the surgical approach was associated with any complication (primary outcome), major complications (i.e., Clavien-Dindo ≥ 3), recurrence, prolonged hospitalization or prolonged chest drainage duration (secondary outcomes).ResultsA total of 212 patients were enrolled. Patients treated via uVATS (n = 71) and mVATS (n = 141) were significantly different in pneumothorax type (secondary spontaneous; uVATS: 54 [76%], mVATS: 79 [56%]; p = 0.004). No significant differences were observed in (major) complications and recurrence rates between both groups. Multivariable analyses revealed that the surgical approach was no significant predictor for the primary or secondary outcomes.ConclusionsThis study indicates that uVATS is non-inferior to mVATS in the surgical treatment of spontaneous pneumothorax regarding safety and efficiency, and thus the uVATS approach has the potential for further improvements in the perioperative surgical care for spontaneous pneumothorax.

Surgical sealant using free pericardial fat pad with fibrin glue and polyglycolic acid sheets for secondary spontaneous pneumothorax: a novel technique.

We report on the "Triple-FP technique," a novel surgical approach for secondary spontaneous pneumothoraces, which combines a free pericardial fat pad, fibrin glue, and polyglycolic acid sheets. In our experience with 13 patients suffering from secondary spontaneous pneumothoraces, this method effectively prevented postoperative air leaks and re-operations. The technique includes the following steps: (1) harvesting free pericardial fat; (2) suturing around the lung parenchymal defect with the needles and thread left outside the thoracic cavity; (3) ensuring contact between the mediastinal pleural side of the fat and the lung; (4) applying fibrin glue to both the lung and fat before suturing; (5) securing the fat to the lung via the suture thread, reinforced with fibrin glue; and (6) stabilization with polyglycolic acid sheets and additional fibrin glue. This innovative technique is a reliable and effective treatment strategy for secondary spontaneous pneumothoraces, especially for patients with fragile lung tissue.

Small cell lung carcinoma presenting initially with recurrent pneumothoraces: a case report

BackgroundPneumothorax is a non-physiological collection of air in the pleural space. Pneumothoraces can be broadly divided into Primary, Secondary, and Traumatic. Cancer of the lung is a known cause of secondary pneumothorax in both primary and metastatic lesions, however, pneumothorax as the presentation of lung cancer is exceedingly rare. Non-small cell lung carcinoma (NSCLC) has been reported in the literature to present with a pneumothorax, particularly in adeno/squamous cell carcinomas. It is almost completely unheard of for small cell lung carcinoma (SCLC) to present with a pneumothorax.Case PresentationWe present the case of a 62-year-old male patient, presenting twice in two months with spontaneous pneumothorax. The initial management involved admission and chest drain insertion. The patient has a past medical history of COPD and a significant smoking history. On the second admission, he underwent a video-assisted thoracoscopic (VATS) bullectomy and talc pleurodesis. The pathology report of the resected specimen confirmed SCLC with extensive infiltration. No gross evidence of metastatic spread was present on CT. Due to the R1 resection and significant risk of recurrence, the management plan included four cycles of adjuvant chemotherapy with carboplatin and etoposide, and radiotherapy as a consideration upon completion.ConclusionsPneumothorax as the presentation of lung cancer imparts a very poor prognosis, however the reasons for this are largely unknown. Furthermore, the mechanisms underlying spontaneous pneumothorax in lung cancer are also not well understood.

Secondary spontaneous pneumothorax as the presenting manifestation of filamin A-associated lung disease.

Secondary pneumothorax due to early-onset emphysema can be a presenting feature of filamin A mutation. https://bit.ly/3ycAeCs.

Comparison of early recurrence in young-onset primary spontaneous pneumothorax following surgery using different covering methods.

The treatment of primary spontaneous pneumothorax not only involves bulla resection via video-assisted thoracic surgery but also covers the lesion. Ideal treatment should minimize adhesions and reduce the recurrence rate. This study aimed to explore different covering methods and compare the frequency of early recurrence for each covering method. We included 370 subjects with primary spontaneous pneumothorax < 25years who were treated with video-assisted thoracic surgery from August 2012 to December 2022. Subjects were divided into three groups depending on how the treated lesions were covered. The P group included 162 subjects treated between April 2012 and June 2017 whose lesions were covered using polyglycolic acid sheets on the staple line of the bulla resection lesion. The O group included 93 subjects treated between July 2017 and July 2019 whose lesions were covered with oxidized regenerated cellulose over a polyglycolic acid sheet. The N group included 115 subjects treated between August 2019 and December 2022 whose lesions were covered with oxidized regenerated cellulose over a polyglycolic acid nano sheet. Recurrence rates were 3.7%, 8.6%, and 6.0% in the P, O, and N groups, respectively; however, the differences were not statistically significant. The adhesions were milder in the N group than in the P and O groups. Although both covering methods were effective in preventing recurrence, further studies involving further treatment modifications and longer-term follow-ups are required.

Clinical characteristics and hospitalization factors in pneumothorax patients: Clinical and therapeutic perspectives from Souss Massa Region

&lt;b&gt;Introduction:&lt;/b&gt; This study aims to investigate the clinical characteristics, therapeutic approaches, and factors influencing length of hospital stay of pneumothorax (PNO) cases.&lt;br /&gt; &lt;b&gt;Materials &amp;amp; methods: &lt;/b&gt;This study employed a retrospective approach. Data were collected from January 2019 to April 2023, encompassing sociodemographic information, toxic habits, medical history, clinical signs, PNO characteristics, treatment modalities, evolution, and complications.&lt;br /&gt; &lt;b&gt;Results&lt;/b&gt;: The study encompassed 158 PNO cases, predominantly males (89.2%) with a median age of 51 years [33-62]. Primary spontaneous pneumothorax accounted for 62.0% of cases, while secondary spontaneous pneumothorax (PSS) constituted 33.5% with chronic obstructive pulmonary disease as the leading cause (34.0%), followed by tuberculosis (20.8%). Drainage was the primary treatment (91.8%), with favorable outcomes in 84.2% of cases. PSS cases were associated with unfavorable evolution and longer hospital stays. Factors associated with prolonged hospitalization included female gender, PSS, total PNO, and surgical treatment.&lt;br /&gt; &lt;b&gt;Conclusions&lt;/b&gt;: This study provides valuable insights into factors influencing prolonged hospitalization of PNO cases in Souss Massa Region. Understanding these factors can aid healthcare professionals in optimizing patient management and improving outcomes.

A Novel Mutation as a Rare Cause of Pneumothorax in a Soldier.

Birt-Hogg-Dube (BHD) is a rare cause of spontaneous pneumothorax caused by an autosomal-dominant mutation in the folliculin gene (FLCN). The syndrome can have widely variable presentations and is associated with recurrent pneumothorax, cystic lung disease, characteristic skin lesions, and renal tumors. Lung cysts have been described in over 80% of cases, and roughly 24 to 38% of patients have at least one pneumothorax and over 75% have multiple pneumothoraces. One of the defining features of this condition is fibrofolliculomas, which are benign tumors of the hair follicle. Given its rarity, the diagnosis is often missed and/or delayed for many years. This delay has clinical implications as screening for renal cancer is recommended in both the patient and affected family members. Increased recognition of this syndrome can lead to more patients receiving definitive treatment for their first pneumothorax, and being screened for renal cancers. We present a rare case of Birt-Hogg-Dubé with a never before described mutation in the FLCN gene, leading to spontaneous pneumothorax in an active duty male soldier.

Deep endometriosis – diagnosis and impact on quality of life

Introduction. Deep infiltrating endometriosis (DIE) is considered the most painful form of endometriosis, responsible for reducing the women’s quality of life (QoL). Its management presents difficulties in medicine. The #Enzian classification reflects locations of DIE and simplifies its medical management. International guidelines recommend studies of QoL in women with endometriosis. Objective. To investigate the symptoms of DIE and determine its impact on QoL to optimize its diagnostics. Materials and methods. A cohort study was conducted over 2 years at the Gheorghe Paladi Municipal Clinical Hospital, including 190 patients with endometriosis, who were divided into groups: main group - 85 patients with DIE, control group - 105 other endometriosis forms. To objectify the pain, Visual Analog Scale and Biberoglu and Behrman (B&amp;B) were used. Endometriosis was staged with the #Enzian classification. For the analysis of QoL, three standardized questionnaires were used. Data were recorded in Excel and statistically calculated with the SPSS program. Results. Pelvic pain syndrome according to the Visual Analog Scale and B&amp;B scales in the main group was 3 times more pronounced than in the control group (p &lt; 0.01). Lesions of DIE according to the #Enzian statistically correlated with chronic pelvic pain, dysmenorrhea, dyspareunia, dysuria, dyschezia &gt;7 points (VAS), catamenial rectal tenesmus, defecation disorders, menometrorrhagia, hematuria, bladder tenesmus, hydronephrosis with ureteral stenting during pregnancy, catamenial cough and hemoptysis, chest pain and spontaneous pneumothorax, hemorrhagic scar, hiccups, and the frenicus symptom (p &lt; 0.05). According to the questionnaires of QoL, DIE significantly influences life determinants by 44.27%, compared to the control group at 3.64% (p &lt; 0.01), allowing realization of life determinants in a maximum of 58.54% vs. the control group’s 92.18% (p &lt; 0.01). Additionally, psychological well-being in patients with DIE is lower than that in the control group (44.29% vs. 81.38%, p &lt; 0.01). Conclusions. High-intensity pain syndrome and extragenital symptoms correlated with compartments of #Enzian will assist in the preoperative multidisciplinary diagnosis of DIE. The high influence on life determinants, the low realization of life potential, and the low psychological well-being confirm the significant impact of DIE on QoL, classifying it as a disability.

Treatment and Outcomes of 844 Cases of Pneumothorax in Heritable Connective Tissue Disorders

BackgroundCharacteristics, practice patterns, and clinical outcomes of secondary spontaneous pneumothorax (SSP) with heritable connective tissue disorders (Marfan, Ehlers-Danlos, and Birt-Hogg-Dubé syndromes) are unclear. MethodsA nationwide Japanese inpatient database that included data of 524 patients with SSP (884 hospitalizations) and 137,821 with primary spontaneous pneumothorax between July 2010 and March 2020 was used in this study. Hospitalization for SSP (n = 884) was categorized into surgical (n = 459) and nonsurgical (n = 425) groups, and the patient characteristics, treatment, and outcomes were compared between the groups. Multivariable analyses were performed to evaluate risk factors for pneumothorax recurrence. We also compared the characteristics of patients with different underlying heritable connective tissue disorders. ResultsCompared with the nonsurgical group, the surgical group had less frequent readmission for pneumothorax (26% vs 44%; hazard ratio, 0.47; 95% CI, 0.38-0.58). Young patients (2.46; 1.83-3.32) or those with Birt-Hogg-Dubé syndrome (2.53; 1.77-3.63) had a high risk of recurrence. Pneumothorax occurred frequently in teenagers with Marfan syndrome, in those aged 20 to 39 years with Ehlers-Danlos syndrome, and in those aged ≥40 years with Birt-Hogg-Dubé syndrome. ConclusionsDetailed information on the characteristics and clinical course of SSP in heritable connective tissue disorders will aid in the clinical decision-making process.

A retrospective cohort study of genetic referral and diagnosis of Birt-Hogg-Dubé Syndrome in patients with Trichodiscoma and Fibrofolliculoma skin lesions.

Birt-Hogg-Dubé (BHD) syndrome is a genetic condition caused by pathogenic variants in the FLCN gene resulting in benign skin lesions, spontaneous pneumothorax, and increased risk for a variety of renal tumors. Skin manifestations of BHD include trichodiscoma (TD) and fibrofolliculoma (FF), which may represent the same pathologic entity. These lesions can identify BHD patients, who upon positive genetic testing can be considered for life-long surveillance for renal neoplasms. To characterize patients diagnosed with TD and FF including rates and outcomes of genetics referral. Retrospective chart reviews of patients with confirmed or possible diagnosis of TD or FF at the University of Michigan from September 2002 through October 2020 to assess pathologic findings, personal and family history of BHD manifestations, referral for genetic evaluation, and genetic testing results. 64 patients had a pathologic diagnosis of TD or FF, 16 of whom (25%) were referred to cancer genetics. Fourteen patients completed genetic evaluation, 9 of whom were diagnosed with BHD (64%), with 6 unique pathogenic variants in FLCN. Providers should consider referral for genetic evaluation for patients with biopsy-proven TD or FF, as early diagnosis of BHD provides the opportunity for early detection and treatment of other BHD-associated conditions.

Long-term Outcomes of Mechanical Pleurodesis for Primary Spontaneous Pneumothorax: A 17-Year Experience

Long-term Outcomes of Mechanical Pleurodesis for Primary Spontaneous Pneumothorax: A 17-Year Experience

Retinal dystrophy associated with Birt-Hogg-Dubé syndrome

Purpose: Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant cancer syndrome characterized by skin fibrofolliculomas, lung cysts, spontaneous pneumothorax, and multifocal renal carcinomas. Ophthalmologic findings associated with BHDS include flecked chorioretinopathy, choroidal melanoma, iris melanocytosis, and eyelid fibrofolliculomas. We present the case of a retinal dystrophy associated with BHDS. Methods: Observational case report. Results: A 48-year-old woman was referred for poor night vision and peripheral visual field loss. She had a past medical history of Birt-Hogg-Dubé syndrome, manifesting as multiple pulmonary cysts and atelectasis of both lungs. Best corrected visual acuity was 20/25 OU. Posterior segment examination revealed significant vessel attenuation and peripheral retinopathy consistent with a retinal dystrophy. Conclusion: This case associates BHDS with retinal pigment epithelial changes and visual field defects. Patients with BHDS should undergo ophthalmological examination as part of their care.