Cystic Lung Research Articles

Rare cystic lung disease: Birt-Hogg-Dubé syndrome

Rare cystic lung disease: Birt-Hogg-Dubé syndrome

CT findings in seven dogs with perforating wooden skewer foreign bodies from the gastrointestinal tract.

Perforating foreign bodies from the gastrointestinal tract, such as wooden skewers, are reported in the small animal literature producing inflammatory/infectious lesions in the thorax, abdomen, and musculoskeletal system, which can be life-threatening in some instances. Several imaging modalities have been used, and advanced imaging techniques have shown a great advantage in its diagnosis and pre-surgical planning. The objective of this study is to describe the computed tomographic findings in a group of seven medium to large breed dogs with perforating wooden skewers and foreign bodies migrated from the gastrointestinal tract. The medical records database was searched for dogs with a suspected diagnosis of a perforating wooden foreign body migrated from the gastrointestinal tract in which a computed tomographic study was performed. Signalment, history, and clinicopathological findings (when available) were retrieved, and the computed tomographic studies were reviewed. Clinical signs vary depending on the anatomical regions affected through the perforating pathway. All foreign bodies were identified and showed a median attenuation of 79 HU, with the most common localization being the stomach followed by the jejunum. Peritoneal fat stranding surrounding the perforation site was the most frequent computed tomographic finding. The presence of peritoneal free fluid and/or gas was uncommon. Pleural effusion, pulmonary perforation, and pneumothorax were present in most of the cases with the foreign body traversing the pleural space. Pulmonary cavitary lesions were always reported when the ending tip of the wooden skewer was within the pulmonary parenchyma. Soft tissue abscessation was recognized in all cases where the ending tip was lodged in muscular or subcutaneous tissues. Findings supported the variability of the secondary lesions caused by this type of foreign body and the utility of computed tomography in their recognition, as well as in the identification of the wooden skewer.

Congenital lung cyst: Report of two cases

Background: Bronchogenic cysts are lesions of congenital origin derived from the primitive foregut and are the most prevailing primary cysts of the mediastinum. Most commonly unilocular, they contain clear fluid or mucinous secretions or, less commonly, haemorrhagic secretions or air. They are lined by columnar ciliated epithelium, and their walls often contain cartilage and bronchial mucous glands. It is unusual for them to have a patent connection with the airway, but when present, such a communication may promote infection of the cyst by allowing bacterial entry. The first successful surgical excision of a bronchogenic cyst was reported by Maier in mid twentieth century leading to its classification based on Mailer postulation. No such reports have been described in South/South Nigeria.

INFLAMMATORY RENAL PSEUDOTUMOR IN WEGENER'S GRANULOMATOSIS: INITIAL MANIFESTATION OF A CASE

We report a case of a 37-year-old woman who was treated in the emergency department with low back pain and intermittent cough for 7 days. Computed tomography and magnetic resonance imaging of the abdomen and pelvis revealed an expansive, heterogeneous formation with ill-defined limits, measuring 6.3 x 5.1 cm, in the upper third of the left kidney and a second expansive formation located in the lower pole of the left kidney, measuring 5.1 x 5.9 x 6.4 cm. She then underwent uneventful left videolaparoscopic radical nephrectomy. After the procedure, the patient progressed with prostration, decreased general condition and cough with brownish secretion, in addition to complaining of decreased visual and hearing acuity. She underwent laboratory and imaging tests, revealing bilateral cavitated lung masses that proved to be a case of Wegener's granulomatosis. Treatment with pulse therapy was initiated, but the patient died days later. This is the 11th case described in the scientific literature and serves as a warning to guide the management of this rare clinical condition, especially with regard to the presentation of inflammatory renal pseudotumor.

Pulmonary Hydatid Cyst: Pathophysiology, etiopathogenesis, diagnosis and treatment

Echinococcosis, genellikle karaciğer ve akciğerleri etkileyen Echinococcus cinsinin cestodlarının neden olduğu parazitik bir hastalıktır. Pulmoner hidatik kistler sıklıkla çocukluk çağında bulaşır ve uzun süre asemptomatik kalır. Sonuç olarak, komplike olmayan vakalarda tanı genellikle tesadüfen konur. Bazı durumlarda kist hidatik patlayabilir ve bu durumda komplike kist olarak adlandırılır. Komplike bir pulmoner kist hidatik oluştuğunda göğüs ağrısı, nefes darlığı, öksürük ve hemoptizi gibi çeşitli semptomlar görülebilir. Tanı için radyolojik yöntemler ve serolojik testler kullanılabilir. Akciğer kist hidatiği için en sık kullanılan radyolojik yöntem akciğer grafisidir. Ekinokokkoz, belirli durumlarda ilaçlarla farmakolojik olarak tedavi edilebilir; bununla birlikte, cerrahi tedavi altın standarttır. Farmakolojik tedavi albendazol gibi benzimidazol grubu ilaçları içerir ve cerrahi tedavide enükleasyon, perisistektomi, kapitonlu sistotomi gibi çeşitli teknikler uygulanır.

Report two case of lymphangioleiomyomatosis (LAM) with presentation of recurrent pneumothorax

Pulmonary Lymphangioleiomyomatosis (LAM) is a rare and female-dominant disease and associated with smooth muscle cell proliferation, (LAM) which presents with diffuse progressive destruction of the pulmonary parenchyma. The incidence is less than 1 per million, which results in cystic lung disease and presente commonly with dyspnea and pneumothorax. Work up for diagnosis and exclusion other disease as: Sjögren’s syndrome type A, B and mazement of angiotensin-converting enzyme (ACE) levels, alpha-1-antitrypsin levels, and vascular endothelial growth factor (VEGF) anti bodies. Definitive diagnosis limited only to tissue sampling. No effective treatments are currently proposed for this disease. Two 49 and 39year-old woman who was referred with recurrent pneumothorax, after thoracotomy and resection, diagnosed was made with pulmonary Lymphangioleiomyomatosis. After pulmonary Lymphangioleiomyomatosis was performed, they treated with anti-estrogen therapy and symptomatic supportive care. In follow up pneumothorax was not occurred again. Pulmonary Lymphangioleiomyomatosis is a very rare disease that cannot be effectively cured.

Acute Pancreatitis as an Uncommon Complication of Hydatid Cyst of the Liver: A Case Report

Hydatid disease, a globally distributed zoonotic infection, exhibits endemicity in numerous countries. Hepatic echinococcosis constitutes the majority of cases, ranging from 60% to 75%, and can lead to a diverse range of complications in approximately one-third of affected individuals. A subset of these complications possesses the potential to be life-threatening, necessitating swift diagnosis and immediate medical intervention [1]. Acute pancreatitis is a rare complication of hydatidosis. It occurs as a consequence of the rupture of a hydatid cyst into the biliary tract. We present a case of a 19-year-old female patient, who has undergone surgery for pulmonary hydatid cyst in 2018. She presented to the emergency department with a recent worsening of atypical epigastric pain persisting for the past 15 days, along with cholestatic jaundice. This is occurring in the context of fever and general asthenia. Lipase was elevated and an Abdominal CT scan showed hepatic cystic lesions and infiltration around the pancreas.

Radiographic analysis provides evidence for the etiology of pulmonary cysts in COVID-19

AbstractBackground and aimImaging of patients with COVID-19 has provided unique insights into the pathophysiology of the infection. Cysts are a rare manifestation of the disease in the lung. The aim of this research was to compare COVID-19-positive patients with cysts on CT to patients without cysts and propose a mechanism for cyst formation in this patient population based on radiographic observations.Materials and MethodsOur HIPAA-compliant IRB-approved research project involved a retrospective review of 219 chest CT scans identified in COVID-19-positive inpatients and emergency room patients at Columbia University Irving Medical Center from February 27, 2020 to July 17, 2020. A thoracic radiologist with over 20 years of experience reviewed the images on lung window settings and identified the presence of cysts, their distribution (central or pleural based), and if there was an accompanying pneumothorax. The extent of consolidation of the entire lung on a scale of 0–16 and the presence of fibrosis were also documented.ResultsCysts were identified in 10 of the 219 patients. CT scans with cysts were obtained on average on day 57 of symptoms (range 16–115 days) compared to CT scans of those without cysts that were obtained on average on day 19 (range 0–89 days). The distribution of cysts was heterogeneous; six patients had multiple cysts while four were isolated. Seven cysts were peripheral in distribution while three were central. Two patients with cysts developed a subsequent pneumothorax. Fifty percent of those with cysts had been intubated.ConclusionsPatients with COVID-19 develop cystic lung lesions for at least two reasons; pleural-based lesions are more likely areas of infarction and central lesions with surrounding ground glass are more likely related to infection and/or mechanical ventilation.

Association of indicators of extensive disease and rifampin-resistant tuberculosis treatment outcomes: an individual participant data meta-analysis

BackgroundIndicators of extensive disease—acid fast bacilli (AFB) smear positivity and lung cavitation—have been inconsistently associated with clinical rifampin-resistant/multidrug-resistant tuberculosis (RR/MDR-TB) outcomes. We evaluated the association of these indicators with end-of-treatment...

Hyperactive mTORC1 in lung mesenchyme induces endothelial cell dysfunction and pulmonary vascular remodeling.

Lymphangioleiomyomatosis (LAM) is a progressive cystic lung disease caused by tuberous sclerosis complex 1/2 (TSC1/2) gene mutations in pulmonary mesenchymal cells, resulting in activation of the mechanistic target of rapamycin complex 1 (mTORC1). A subset of patients with LAM develop pulmonary vascular remodeling and pulmonary hypertension. Little, however, is known regarding how LAM cells communicate with endothelial cells (ECs) to trigger vascular remodeling. In end-stage LAM lung explants, we identified EC dysfunction characterized by increased EC proliferation and migration, defective angiogenesis, and dysmorphic endothelial tube network formation. To model LAM disease, we used an mTORC1 gain-of-function mouse model with a Tsc2 KO (Tsc2KO) specific to lung mesenchyme (Tbx4LME-Cre Tsc2fl/fl), similar to the mesenchyme-specific genetic alterations seen in human disease. As early as 8 weeks of age, ECs from mice exhibited marked transcriptomic changes despite an absence of morphological changes to the distal lung microvasculature. In contrast, 1-year-old Tbx4LME-Cre Tsc2fl/fl mice spontaneously developed pulmonary vascular remodeling with increased medial thickness. Single-cell RNA-Seq of 1-year-old mouse lung cells identified paracrine ligands originating from Tsc2KO mesenchyme, which can signal through receptors in arterial ECs. These ECs had transcriptionally altered genes including those in pathways associated with blood vessel remodeling. The proposed pathophysiologic mesenchymal ligand-EC receptor crosstalk highlights the importance of an altered mesenchymal cell/EC axis in LAM and other hyperactive mTORC1-driven diseases. Since ECs in patients with LAM and in Tbx4LME-Cre Tsc2fl/fl mice did not harbor TSC2 mutations, our study demonstrates that constitutively active mTORC1 lung mesenchymal cells orchestrated dysfunctional EC responses that contributed to pulmonary vascular remodeling.

A Rare Case of Giant Pulmonary Bullae Compressing the Heart with a Brief Review

Introduction: An air space of >1cm and air space occupying >1/3 of hemithorax are called as bullae and Giant Pulmonary Bullae (GPB), respectively. GPBs are rare and usually accompany smoking abuse-related diseases. The GPB may lead to hypoxia and or mass-like compression effect on neighboring healthy lung and mediastinum. The bullectomy is the gold standard but in surgically unfit cases one has to select result result-oriented, minimal-invasive procedure with considering risk and benefit.Case report: A 27-year-old chest symptomatic female with idiopathic GPB occupying most of the right hemithorax with herniation to the contralateral side was detected on CT thorax with low cardiac ejection fraction on ECHO. A tremendously improved cardiac ejection fraction from 30 to 58% was achieved after a simple percutaneous intracavitary placement of a pigtail catheter with an underwater seal carried out with local anesthesia. Also, she could be weaned off from O2 support.Discussion: In a surgical unfit case of GPB the number of bullae, its size, site, and location (unilateral or bilateral) with evaluation of the underlying condition of lung and comorbidity is a prerequisite for intervention. An alternate minimally invasive procedure is to have opted to decompress the GPB. Spontaneous pneumothorax is the most common complication GPB, even without a percutaneous procedural approach, and can easily be managed with an underwater seal drainage tube.Conclusion: The GPB may lead to chronic hypoxia and a mass-like effect, so to avoid life-threatening emergency situations decompression of GPB be considered followed by resection

Acute Pulmonary Edema Following Cardiopulmonary Bypass: A Case Report

Background: Acute pulmonary edema following cardiopulmonary bypass (CPB) is a serious complication, the etiology of which could be classified into two groups: cardiogenic and noncardiogenic. Case presentation: We present a 42-year-old male with multiple pulmonary bullae scheduled for mitral valve and aortic valve replacement. Acute pulmonary edema occurred approximately 1 hour after weaning from CPB. The diagnosis of non-cardiogenic pulmonary edema was established with changes in pathophysiology and findings on ultrasound. The patient was promptly treated and transferred to the ICU uneventfully. Conclusions: This case report highlights the changes in pathophysiology combined with ultrasound findings to establish a diagnosis in the operating room. We also emphasize the perioperative management of noncardiogenic pulmonary edema.

Safety and efficacy of cryobiopsy for the diagnosis of lymphangioleiomyomatosis compared with forceps biopsy and surgical lung biopsy

BackgroundTransbronchial lung forceps biopsy (TBFB) is recommended before a surgical lung biopsy (SLB) when a definitive diagnosis of lymphangioleiomyomatosis (LAM) is required for patients without any additional confirmatory features. Transbronchial lung cryobiopsy (TBCB) has been suggested as replacement test in patients considered eligible to undergo SLB for the diagnosis of interstitial lung diseases. The efficacy and safety of TBCB were compared with that of TBFB and SLB in the diagnosis of LAM.MethodsA retrospective analysis was conducted on 207 consecutive patients suspected with LAM in the First Affiliated Hospital of Guangzhou Medical University from 2005 to 2020.ResultsThe difference in diagnostic rate of patients suspected with LAM between TBCB (20/30, 66.7%) and TBFB (70/106, 66.0%) groups was not significant (p = 0.949). One patient performed TBCB with negative pathological results could be diagnosed exclusively after SLB. LAM diagnosis was confirmed by surgical pathological findings in 3 TBFB-negative patients. More patients with minimal cystic profusion were diagnosed with LAM by TBCB (5/19, 26.3%) and SLB (11/39, 28.2%) than by TBFB (3/61, 4.9%) (TBCB vs TBFB: p = 0.04, SLB vs TBFB, p < 0.001). The difference between the severity of cystic lung disease in patients diagnosed with LAM through TBCB and SLB was not significant (p > 0.05). One pneumothorax, 8 mild bleeding and 1 moderate bleeding were observed in TBCB. One pneumothorax, 15 mild bleeding and 1 moderate bleeding occurred after TBFB.ConclusionCompared to TBFB, TBCB is safe and effective in diagnosing LAM at a higher diagnostic rate in patients with minimal cystic profusion.

Cystic Diseases of the Lung and Cystic Bronchiectasis – Why Do We Differentiate?

ABSTRACT Multiple cystic lung diseases represent a group of uncommon disorders that can present a diagnostic challenge due to their resemblance with much more common conditions such as cystic bronchiectasis. It is a common practice that cystic lung diseases without other systemic features are often diagnosed as bronchiectasis. This is very often encountered in conditions such as congenital pulmonary airway malformations. Ignorance about the existence of this lung condition can lead to missed or delayed diagnosis. High-resolution computed tomography of the chest helps to define the morphological aspects and distribution of lung cysts, as well as associated findings.

Uniportal video-assisted thoracic surgery for the creation of a total pleural covering for patients with Birt-Hogg-Dubé syndrome and secondary pneumothorax associated with hereditary multiple pulmonary cysts: surgical technique

Uniportal video-assisted thoracic surgery for the creation of a total pleural covering for patients with Birt-Hogg-Dubé syndrome and secondary pneumothorax associated with hereditary multiple pulmonary cysts: surgical technique

Boolean model of the gene regulatory network of Pseudomonas aeruginosa CCBH4851.

Pseudomonas aeruginosa infections are one of the leading causes of death in immunocompromised patients with cystic fibrosis, diabetes, and lung diseases such as pneumonia and bronchiectasis. Furthermore, P. aeruginosa is one of the main multidrug-resistant bacteria responsible for nosocomial infections worldwide, including the multidrug-resistant CCBH4851 strain isolated in Brazil. One way to analyze their dynamic cellular behavior is through computational modeling of the gene regulatory network, which represents interactions between regulatory genes and their targets. For this purpose, Boolean models are important predictive tools to analyze these interactions. They are one of the most commonly used methods for studying complex dynamic behavior in biological systems. Therefore, this research consists of building a Boolean model of the gene regulatory network of P. aeruginosa CCBH4851 using data from RNA-seq experiments. Next, the basins of attraction are estimated, as these regions and the transitions between them can help identify the attractors, representing long-term behavior in the Boolean model. The essential genes of the basins were associated with the phenotypes of the bacteria for two conditions: biofilm formation and polymyxin B treatment. Overall, the Boolean model and the analysis method proposed in this work can identify promising control actions and indicate potential therapeutic targets, which can help pinpoint new drugs and intervention strategies.

Congenital Pulmonary Airway Malformation Type 1 with Pulmonary Neuroendocrine Cell Hyperplasia in an Adult Male: a Rare Case Report

Abstract Introduction/Objective Congenital pulmonary airway malformations (CPAM) is rare, usually diagnosed in the pediatric population, and may occur in adults. Pulmonary neuroendocrine cell hyperplasia (PNECH) mimicking diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) associated with CPAM has not been described previously. We report a case of CPAM Type 1 with PNECH. Methods/Case Report A 33-year-old male, with past medical history of latent tuberculosis (TB) by Quantiferon blood testing, recurrent pneumonia, recurrent lung abscesses, and lung cavitary lesion for three years, presented with fever, cough with hemoptysis, shortness of breath, and left-sided chest pain. Computerized tomography of chest displayed a 10.8 cm cavitary lesion in the left lower lobe of the lung. The patient underwent left lower lobectomy of the lung. Grossly, the lobectomy specimen revealed a 10.5 cm irregular cavity communicating to the superior segmental bronchus of the left lower lobe. Microscopically, the dominant large cyst was surrounded by lung parenchyma and small cystically dilated spaces resembling bronchioles under the fibrotic pleura. The large cyst was lined by respiratory epithelium with rare pathognomonic mucous cells in clusters. Cyst walls contained smooth muscle, small islands of cartilage, and focal intense acute and chronic inflammatory cell infiltrates with hemorrhage. There were multiple foci of proliferation of pulmonary neuroendocrine cells centered around bronchioles surrounding the large cyst. The neuroendocrine cells were arranged from individual cells and cellular aggregates to larger tumorlets, highlighted by Synaptophysin and Chromogranin immunostains. No granuloma or necrosis was present. No acid-fast bacilli or fungal microorganisms were identified by special stains. The findings are consistent with CPAM type 1, with PNECH. Results (if a Case Study enter NA) NA Conclusion Our study demonstrates a histologically diagnosed adult congenital pulmonary airway malformations type 1 with an incidental pulmonary neuroendocrine cell hyperplasia, which mimics diffuse idiopathic pulmonary neuroendocrine cell hyperplasia. To the best of our knowledge, this is the first report of such an association.

High Prevalence of Vulvar and Hepatic Manifestations in a Series of 18 Histiocytosis with Brafdel Mutations

Introduction L-group histiocytosis (Erdheim-Chester disease (ECD) and Langerhans-cell histiocytosis (LCH)) are multi-system diseases characterized by histiocyte infiltration in several organs. These histiocytes frequently harbor activating somatic mutations of the MAP Kinase pathway. Many of these mutations are frequently associated with a specific phenotype: BRAF V600Emutated ECD patients have more frequently cardiac and vascular involvements, MAP2K1 mutated ECD patients may exhibit overt Rosai-Dorfman Disease (RDD) component, and ALK-mutated patients have a high prevalence of neurological involvement. Our objective was to describe characteristics of patients with histiocytosis and a particular BRAF-deletion mutation. Methods We performed a retrospective multi-center study. Patients were identified through the Histiocytosis national referral center pathology laboratory in Ambroise-Paré Hospital (Boulogne-Billancourt) in which all suspected diagnosis of histiocytosis samples are sent for proofreading and sequencing. Samples are sequenced with a specific panel next generation sequencing. We identified patients with BRAFdel mutations and contacted the centers for clinical, morphological, and biological datas. Results Twenty-four patients with a BRAFdel mutation were identified. Data were available for 18 of them. Most patients (n=17) had LCH (one with an ECD component) and one had an ECD. Median age at diagnosis was 50 years (IQR 35-78). The most frequent manifestations were hepatic (n=8, 44%) and vulvar (8/10 female gender patients, 80%). Other manifestations were cystic interstitial lung disease (n=6), lytic bone lesions (n=7), diabetes insipidus (n=6), panhypopituitarism (n=3), pachymeningitis (n=2), long bone osteosclerosis (n=1), perirenal infiltration (n=1), salivary gland infiltration (n=1) and digestive track infiltration (n=1). Hepatic manifestation was sclerosing cholangitis in all patients, and 5/6 patients had histiocytic infiltration in liver biopsy. All patients with sclerosing cholangitis had biological cholestasis, elevated aminotransferases, and hyperbilirubinemia. No patient had cirrhosis. Hepatic MRI, when performed, always showed cholangitis (5/5). PET-scan showed liver abnormalities in 4/6 patients (heterogenous liver uptake or uptake in biliary ducts). First line treatments included vinblastine (n=5), aracytine (n=1), methotrexate (n=1), cladribine (n=1) and cobimetinib (n=1). Nine patients did not receive any treatment. Two patients received cobimetinib, that resulted in partial remission and stable disease at 6 months. After a median follow-up of 43 (IQR 11-315 months), one patient had died from unknown cause. Conclusion BRAF-deletion mutations in histiocytoses are associated with a specific LCH pattern with high prevalence of hepatic and vulvar involvements. These manifestations should be carefully screened in these patients.

612. Coccidioidal Pulmonary Cavitation: A New Age

Abstract Background The majority of literature on cavitary pulmonary coccidioidomycosis is from four decades ago which was prior to the advent of triazoles and focused on surgical treatment. This observational study is a comprehensive retrospective study of pulmonary cavitary coccidioidomycosis from patients at Valley Fever Institute at Kern Medical over the last 12 years. This observational study aims to explore the spectrum of coccidioidal cavities and the evaluation and management of those cavities. Methods IRB approved, retrospective review of electronic medical records of the Valley Fever Institute database was conducted. Demographics, comorbidities, types, and the number of cavities, complications, and medical and surgical treatment were gathered and compared to the literature. PubMed and Google Scholar were searched for cavitary pulmonary coccidioidomycosis Results Of the initially 276 identified patients, 137 met the inclusion criteria. This study found 52 (37.2%) patients with hemoptysis. One case (0.7%) required radiologic intervention to occlude the bleeding vessel, and one (0.7%) case of hemorrhage required right upper lobe lobectomy. Nine (6.6%) cases exhibited a ruptured cavity. Eight of those cases had initial chest tube placement, of which three (3/8, 37.5%) did not require surgical intervention. Seven of 137 (5.1%) cases presented with a pleural effusion not associated with a cavity rupture. Five (3.7%) were due to primary coccidioidomycosis. Three of the coccidioidal effusions required therapeutic thoracentesis, and none required a chest tube or surgery. The mean duration of the initial antifungal treatment was found to be 563 days (n=80). In 35% (28/ 80) of them, a triazole was switched to another triazole for variable reasons, including treatment failure or side effects. Conclusion Coccidioidal pulmonary cavitation remains a complex disease to evaluate and treat. This study's ethnic demographic differed from other cohorts. It also contradicts the notion that pulmonary coccidioidal cavitary disease and dissemination infrequently manifest in the same patient. In the present age of triazole therapy, indications and the need for surgery continue to decline. Further investigation needs to be conducted to evaluate medical therapy’s efficacy and long-term outcomes. Disclosures Rupam Sharma, PGY-1/MD, Astellas: Grant/Research Support George R. Thompson, III, MD, Astellas: Advisor/Consultant|Astellas: Grant/Research Support|Cidara: Advisor/Consultant|Cidara: Grant/Research Support|F2G: Advisor/Consultant|F2G: Grant/Research Support|Mayne: Advisor/Consultant|Mayne: Grant/Research Support|Melinta: Advisor/Consultant|Melinta: Grant/Research Support|Mundipharma: Advisor/Consultant|Mundipharma: Grant/Research Support|Pfizer: Advisor/Consultant|Pfizer: Grant/Research Support

Coexistent Sjogren’s syndrome and Birt-Hogg-Dube´ syndrome: a case report

We report a rare case of Sjogren’s syndrome complicated with Birt-Hogg-Dubé syndrome (BHDS) not previously mentioned in the literature. Further, there is insufficient evidence linking the two diseases. Here, we review existing diagnostic algorithms for diagnosing diffuse cystic lung disease and provide new insights. The patient initially complained of thirst and dry eyes for ten years, and gradually developed shortness of breath. After admission, physical examination showed five missing teeth, decreased respiratory sounds in both lower lungs, and Velcro rales. Computed tomography showed multiple thin-walled cystic lesions in both lungs. Initial xerophthalmia and labial gland biopsy seemed to reveal a pulmonary cystic change associated with Sjogren’s syndrome. Before discharge, a rash suspected to indicate a fibrofollicular tumor in the neck was observed, and then FLCN variant has been found. The challenges how to clarify the diagnosis of DCLD causes are discussed.