Bilateral Pulmonary Cysts Research Articles

LIFE CYCLE OF A COVID-19-INDUCED LUNG CYST

LIFE CYCLE OF A COVID-19-INDUCED LUNG CYST

Pulmonary lymphangioleiomyomatosis with an associated giant renal angiomyolipoma.

Pulmonary lymphangioleiomyomatosis (LAM), a rare, progressive disease predominantly affecting the lungs of women of reproductive age, is often associated with renal angiomyolipoma (AML). We report the case of a 29-year-old female patient who presented to our obstetrics department at 37 weeks’ gestation, complaining of abdominal pain, and constipation. Ultrasound noted a viable singleton with a large left-sided abdominal mass. After undergoing a caesarean section, she was referred to our urology department to assess her flank mass further. Computed tomography demonstrated a large, exophytic left renal mass measuring 22 cm x 16 cm x 13 cm, suggestive of an AML and numerous bilateral pulmonary cysts. A diagnosis of LAM and associated unilateral giant renal AML was made. As soon as she had fully recovered from her caesarean section, we removed the huge AML via a standard left-sided open nephrectomy without incident. We report this rare case of giant AML associated with LAM and review the literature about the association of these two conditions.

Novel folliculin gene mutations in Polish patients with Birt\u2013Hogg\u2013Dub\xe9 syndrome

BackgroundBirt–Hogg–Dubé syndrome (BHDS) is a rare, autosomal dominant, inherited disease caused by mutations in the folliculin gene (FLCN). The disease is characterised by skin lesions (fibrofolliculomas, trichodiscomas, acrochordons), pulmonary cysts with pneumothoraces and renal tumours. We present the features of Polish patients with BHDS.Materials and methodsThe first case of BHDS in Poland was diagnosed in 2016. Since then, 15 cases from 10 families have been identified. Thirteen patients were confirmed via direct FLCN sequencing, and two according to their characteristic clinical and radiological presentations.ResultsBHDS was diagnosed in 15 cases (13 women and 2 men) from 10 families. The mean ages at the time of first pneumothorax and diagnosis were 38.4 ± 13.9 and 47.7 ± 13 years, respectively. Five patients (33%) were ex-smokers (2.1 ± 1.37 packyears), and 10 (67%) had never smoked cigarettes. Twelve patients (83%) had a history of recurrent symptomatic pneumothorax. Three patients had small, asymptomatic pneumothoraces, which were only detected upon computed tomography examination. All patients had multiple bilateral pulmonary cysts, distributed predominantly in the lower and middle, peripheral, and subpleural regions of the lungs. Generally, patients exhibited preserved lung function. Skin lesions were seen in four patients (27%), one patient had renal angiomyolipoma, and one had bilateral renal cancer. Different mutations of the FLCN gene were identified (mainly in exon 6), with two novel heterozygous variants: c.490delA p.(Arg164GlyTer13) and c.40delC p.(His14ThrsfTer41).ConclusionsAll analysed patients with BHDS presented with lung lesions and with less frequent skin and renal lesions than previously reported in other populations. In addition, more frequent mutations located in exon 6 were detected, and two novel FLCN gene mutations were identified.

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.

Birt Hogg Dube Syndrome (BHDS)

SESSION TITLE: Sarcoidosis and Cystic Lung Disease SESSION TYPE: Affiliate Case Report Poster PRESENTED ON: Tuesday, October 31, 2017 at 01:30 PM - 02:30 PM INTRODUCTION: BHDS is a rare pulmonary cystic disease associated with pulmonary cysts in 80-90% cases. It causes spontaneous pneumothorax in 35% cases and recurrence rate is 75%. It is an autosomal dominant genetic disorder, incidence is unknown and approximately 200 families have been identified worldwide. CASE PRESENTATION: A 61 year-old nonsmoker man admitted to the hospital with sudden onset chest pain and shortness of breath. Initial chest radiograph showed right apical pneumothorax which resolved with chest tube placement. CT chest showed multiple bilateral pulmonary cysts and incidental finding of two complex right renal masses. Patient had a history of spontaneous pneumothorax (treated conservatively 25 years ago) and skin basal cell carcinoma. Family history was significant for brother with pulmonary cysts and renal cell carcinoma. Further work up revealed positive folliculin (FLCN) gene mutation confirming BHDS. Patient was discharged home in stable condition and is being followed in pulmonary and urology clinic as he is at risk of recurrence of pneumothorax and lifelong risk of renal cell cancer. DISCUSSION: A BHDS is characterized by hallmark triad of cutaneous lesions, pulmonary cysts and renal cell tumors. It is caused by germline mutation in FLCN gene on short arm of chromosome 17. It is an underdiagnosed entity and physicians should consider BHDS in patients presenting with personal or family history of pneumothoaces, particularly if skin lesions or renal tumors are present. Genetic testing for FLCN gene mutation not only confirm the diagnosis but also allows to screen at risk asymptomatic family members. Pulmonary cysts are adult onset, present in various sizes with basilar and subpleural predominance, and can rupture causing spontaneous pneumothorax. Management of pulmonary manifestations focuses on the treatment of pneumothorax. CONCLUSIONS: We present a case of BHDS, diagnosed in a patient with recurrent spontaneous pneumothorax and renal mass. BHDS has an increased risk of recurrent pneumothorax and additional studies are needed to understand the exact mechanism underlying the pulmonary cyst formation. Role of early pleurodesis and surgery to prevent recurrent pneumothorax in compare to conservative therapy with first episode of pneumothorax in BHDS patients is not clear. Reference #1: Gupta, Nishant, MD; Sunwoo, Bernie Y., MBBS; Kotloff, Robert M., MD; Clinics in Chest Medicine, 2016-09-01, Volume 37, Issue 3. Pages 475-486. DISCLOSURE: The following authors have nothing to disclose: Mohammedumer Nagori, Rafid Fadul No Product/Research Disclosure Information

Molecular genetics and clinical features of Birt-Hogg-Dubé syndrome.

Birt-Hogg-Dubé (BHD) syndrome is an inherited renal cancer syndrome in which affected individuals are at risk of developing benign cutaneous fibrofolliculomas, bilateral pulmonary cysts and spontaneous pneumothoraces, and kidney tumours. Bilateral multifocal renal tumours that develop in BHD syndrome are most frequently hybrid oncocytic tumours and chromophobe renal carcinoma, but can present with other histologies. Germline mutations in the FLCN gene on chromosome 17 are responsible for BHD syndrome--BHD-associated renal tumours display inactivation of the wild-type FLCN allele by somatic mutation or chromosomal loss, confirming that FLCN is a tumour suppressor gene that fits the classic two-hit model. FLCN interacts with two novel proteins, FNIP1 and FNIP2, and with AMPK, a negative regulator of mTOR. Studies with FLCN-deficient cell and animal models support a role for FLCN in modulating the AKT-mTOR pathway. Emerging evidence links FLCN with a number of other molecular pathways and cellular processes important for cell homeostasis that are frequently deregulated in cancer, including regulation of TFE3 and/or TFEB transcriptional activity, amino-acid-dependent mTOR activation through Rag GTPases, TGFβ signalling, PGC1α-driven mitochondrial biogenesis, and autophagy. Currently, surgical intervention is the only therapy available for BHD-associated renal tumours, but improved understanding of the FLCN pathway will hopefully lead to the development of effective forms of targeted systemic therapy for this disease.

Two Cases of Birt-Hogg-Dubé Syndrome with Pulmonary Cysts

Birt-Hogg-Dube (BHD) syndrome is a rare autosomal-dominant disease caused by germline folliculin (FLCN) mutations, characterized by fibrofolliculoma or trichodiscoma, renal tumors, and multiple lung cysts with or without spontaneous pneumothorax. Here, we report two cases of BHD syndrome that presented with bilateral pulmonary cysts. One patient was a 39-year-old woman who had a history of pneumothorax, multiple papules on her cheeks, and a family history of the same skin lesions and renal cell carcinoma in her father. BHD syndrome was confirmed by molecular tests that revealed a missense mutation in FLCN gene (exon 4, c.31T > C). The other patient was a 56-year-old man who showed FCLN gene polymorphism and typical radiopathological features of multiple cysts in the lung, but apparently no other manifestation. (Korean J Med 2014;87:477-483)

Pulmonary Langerhans Cell Histiocytosis X Presented with Bilateral Pneumothorax : A Case Report

Background: The report describes the case of a 20-year-old Saudi male patient with Pulmonary Langerhans cell histiocytosis X (PLCH). He presented with bilateral chest pain of few hours duration starting first on the right side. The patient had also dyspnea and non productive cough. The patient was heavy smoker for 6 years. General examination revealed that the patient had tachypnea but he was hemodynamically stable. Chest examination showed bilateral distant breath sounds but no hyperresonance. Chest x-rays revealed bilateral pneumothorax and high resolution CT scan of the chest revealed multiple bilateral pulmonary cysts. Oxygen is given to the patient and bilateral chest tubes were applied. Video assisted thoracic surgery was performed in 2 sessions with one week interval to resect the dominant blebs and to perform pleurodesis. The final histopathological diagnosis was pulmonary Langerhans cell histiocytosis X. Follow-up for more than 5 years revealed no recurrence. Pulmonary Langerhans cell histiocytosis X is a rare disease and may present by spontaneous pneumothorax, so, high index of suspicion is required in heavy smoker young males to diagnose the condition and to perform pleurodesis preventing recurrence of the pneumothorax which is expected to be high in PLCH

Survival with combined modality therapy after intracerebral recurrence of pleuropulmonary blastoma

Background We present and discuss the successful treatment of pleuropulmonary blastoma metastatic to the brain using a multimodality regimen with surgery, high-dose chemotherapy and radiation therapy. Procedure A 3-year-old boy referred to our institution with bilateral pulmonary cysts was diagnosed with pleuropulmonary blastoma (PPB). Initial treatment included surgery and multiagent chemotherapy with vincristine, dactinomycin, cyclophosphamide, cisplatin, and doxorubicin. One year after the completion of therapy, his PPB recurred as an intracerebral metastasis, and required further treatment with a multimodality salvage regimen. The child was successfully treated with a subtotal surgical resection, followed by high-dose cyclophosphamide, and radiation therapy. He is now disease-free 24 months later. Results Intracerebral metastases of PPB have been a uniformly fatal complication of this tumor. Postsurgical chemotherapy and radiation therapy appear to have contributed to the prolonged survival and potential for cure in our patient. Conclusions The use of this multimodality regimen may be warranted in other patients with recurrent PPB metastatic to the brain. Med. Pediatr. Oncol. 30:63–66, 1998. © 1998 Wiley-Liss, Inc.

Beidseitige Riesenblähzysten bei Lymphangioleiomyomatose der Lunge als seltene Ursache einer Einflußstauung

We report on a 27-year-old female developing acute thoracic inlet obstruction by bilateral pulmonary cysts which arose from pulmonary lymphangioleiomyomatosis and increased with respiratory treatment. Bilateral synchronous bullectomy via median sternotomy was necessary to resolve the life-threatening condition. The most frequent differential diagnoses are tension pneumothorax and pericardial tamponade. Although this case of thoracic inlet obstruction was caused by a rare disease it may serve to recall the therapeutic problems encountered in bullous pulmonary lesions under tension, especially regarding acute volume expansion due to one-way valve mechanism during respiratory treatment or general anaesthesia.