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A 63-year-old Japanese woman with multiple cysts in both lungs on chest computed tomography (CT) was referred to our hospital after a thorough examination, including a transbronchial lung biopsy (TBLB), failed to provide a diagnosis. Based on the findings on chest CT and pathological examination of the bronchoalveolar lavage fluid and transbronchial lung cryobiopsy (TBLC) specimen, the patient was diagnosed with pulmonary Langerhans cell histiocytosis (PLCH). TBLC may replace TBLB as the main diagnostic technique for PLCH, although further studies are required to determine the usefulness of TBLC for the diagnosis of PLCH.

Light chain deposition disease (LCDD) is a rare hematologic disorder characterized by non-amyloid monoclonal immunoglobulin light chain deposition in multiple organs. Pulmonary LCDD (PLCDD) is an uncommon manifestation of LCDD usually seen in middle-aged patients presenting with radiologic cystic and nodular findings. We report the case of a 68-year-old female who presented with shortness of breath and atypical chest pain. Chest computerized tomography (CT) scan revealed numerous diffuse but basilar predominant pulmonary cysts and mild bronchiectasis without nodular disease. Given concomitant abnormal renal function and hepatic laboratory indices, she underwent biopsy of both organs confirming the presence of LCDD. Directed chemotherapy was initiated and stabilized renal and hepatic progression, but on follow-up imaging, pulmonary disease appeared worse. While therapeutic options targeting other organ involvement are available, their directed efficacy for progressive lung disease is not well known.

Spontaneous pneumothorax is a common manifestation of Birt–Hogg–Dubé (BHD) syndrome, an inherited disorder caused by mutation of the folliculin (FLCN) gene. A 44-year-old female with a history of breast cancer was diagnosed with recurrent pneumothorax. Chest CT showed multiple cysts with left lung pneumothorax, and she received surgery for the diagnosis. Because the patient also had a family history of spontaneous pneumothorax, a FLCN genetic examination was conducted. A novel heterozygous, likely pathogenic variant (NM_144997.5:c.779+2T > C) was detected in the proband, her mother, and aunt. This is the first report of a new mutation of FLCN gene in a BHD syndrome patient.

Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant disease which manifests with cutaneous hamartomas, lung cysts and renal carcinomas. A wide spectrum of phenotypic expression and few visible manifestations makes BHDS a likely under-recognized entity. Diffuse cystic lung disease (DCLD) is the typical pulmonary manifestation of BHDS, which in the absence of other specific findings carries a broad differential diagnosis. Unlike many other causes of DCLD, BHDS is not known to present with symptomatic pulmonary dysfunction. We report a typical case of BHDS with an atypical presentation – chronic progressive dyspnea. The unusual presentation provides an opportunity to discuss the differential for DCLD and highlights the importance of maintaining an index of suspicion for BHDS even when symptoms appear inconsistent with the diagnosis. Also examined is the management of BHDS patients and their immediate relatives, and recommendations for the treatment of obstructive sleep apnea (OSA) with continuous positive airway pressure (CPAP) given the potential risk of pneumothorax in this group.

Pulmonary Langerhans cell histiocytosis (PLCH) is a rare cystic lung disease. The natural history is often unpredictable making it difficult to diagnose. We report a 63-year-old male with dyspnoea, chronic cough and recurrent respiratory tract infections, who developed progressive multifocal cystic lesions on pulmonary nodule surveillance over 4 years. He was a heavy smoker with a history of multiple spontaneous pneumothoraces in his teens. Extensive investigations culminated in a thoracoscopic wedge resection, which identified histiocytic nodules staining positive for CD1a and thus confirming the diagnosis of PLCH. It is now apparent that PLCH was the likely cause of his pneumothoraces.

A 63-year-old Japanese woman with multiple cysts in both lungs on chest computed tomography (CT) was referred to our hospital after a thorough examination, including a transbronchial lung biopsy (TBLB), failed to provide a diagnosis. Based on the findings on chest CT and pathological examination of the bronchoalveolar lavage fluid and transbronchial lung cryobiopsy (TBLC) specimen, the patient was diagnosed with pulmonary Langerhans cell histiocytosis (PLCH). TBLC may replace TBLB as the main diagnostic technique for PLCH, although further studies are required to determine the usefulness of TBLC for the diagnosis of PLCH. [ABSTRACT FROM AUTHOR]

Perivascular epithelioid cell tumors (PEComas) are mesenchymal neoplasms with immunoreactivity for both melanocytic and smooth muscle markers. PEComas occur at multiple sites, and malignant PEComas can undergo metastasis, recurrence and aggressive clinical courses. Although the lung is a common metastatic site of PEComas, they usually appear as multiple nodules but rarely become cystic or cavitary. Here, we describe a female patient whose lungs manifested multiple cystic, cavity-like and nodular metastases 3 years after the resection of uterine tumors tentatively diagnosed as epithelioid smooth muscle tumors with uncertain malignant potential. This patient's subsequent pneumothorax necessitated video-assisted thoracoscopic surgery, and examination of her resected lung specimens eventually led to correcting the diagnosis, i.e., to a PEComa harboring tuberous sclerosis complex 1 (TSC1) loss-of-heterozygosity that originated in the uterus and then metastasized to the lungs. The administration of a gonadotropin-releasing hormone analogue later stabilized her clinical course. To the best of our knowledge, the present case is the first in the literature that associates PEComas with a TSC1 abnormality. Additionally, the pulmonary manifestations, including imaging appearance and pneumothorax, somewhat resembled those of lymphangioleiomyomatosis, a representative disease belonging to the PEComa family. Although PEComas are rare, clinicians, radiologists and pathologists should become aware of this disease entity, especially in the combined clinical setting of multiple cystic, cavity-like, nodular lesions on computed tomography of the chest and a past history of the tumor in the female reproductive system.

Light chain deposition disease (LCDD) is a rare hematologic disorder characterized by non-amyloid monoclonal immunoglobulin light chain deposition in multiple organs. Pulmonary LCDD (PLCDD) is an uncommon manifestation of LCDD usually seen in middle-aged patients presenting with radiologic cystic and nodular findings. We report the case of a 68-year-old female who presented with shortness of breath and atypical chest pain. Chest computerized tomography (CT) scan revealed numerous diffuse but basilar predominant pulmonary cysts and mild bronchiectasis without nodular disease. Given concomitant abnormal renal function and hepatic laboratory indices, she underwent biopsy of both organs confirming the presence of LCDD. Directed chemotherapy was initiated and stabilized renal and hepatic progression, but on follow-up imaging, pulmonary disease appeared worse. While therapeutic options targeting other organ involvement are available, their directed efficacy for progressive lung disease is not well known. • Light chain deposition disease may involve multiple organs including the lungs as cystic and nodular findings. • Patients may present with nonspecific shortness of breath, cough, or atypical chest pain. • Pulmonary involvement often has a more indolent radiologic course, with most indications for directed treatment targeting renal impairment. • Established treatment protocols are unknown in terms of their impact on progressive lung disease. [ABSTRACT FROM AUTHOR]

The diffuse cystic lung diseases (DCLDs) are a pathophysiologically heterogeneous processes characterized by the presence of multiple thin-walled, air-filled spaces within the pulmonary parenchyma. The most common causes of DCLD are lymphangioleiomyomatosis (LAM) and pulmonary Langerhans cell histiocytosis (PLCH). DCLD develops rarely as a result of malignancy, typically secondary to metastases from peripheral sarcomas and mesenchymal tumors. DCLD have also been reported in a variety of other metastatic disease such as adenocarcinoma. Our case describes a patient with DCLD as a result of metastatic colorectal adenocarcinoma.

Perivascular epithelioid cell tumors (PEComas) are mesenchymal neoplasms with immunoreactivity for both melanocytic and smooth muscle markers. PEComas occur at multiple sites, and malignant PEComas can undergo metastasis, recurrence and aggressive clinical courses. Although the lung is a common metastatic site of PEComas, they usually appear as multiple nodules but rarely become cystic or cavitary. Here, we describe a female patient whose lungs manifested multiple cystic, cavity-like and nodular metastases 3 years after the resection of uterine tumors tentatively diagnosed as epithelioid smooth muscle tumors with uncertain malignant potential. This patient's subsequent pneumothorax necessitated video-assisted thoracoscopic surgery, and examination of her resected lung specimens eventually led to correcting the diagnosis, i.e., to a PEComa harboring tuberous sclerosis complex 1 ( TSC1 ) loss-of-heterozygosity that originated in the uterus and then metastasized to the lungs. The administration of a gonadotropin-releasing hormone analogue later stabilized her clinical course. To the best of our knowledge, the present case is the first in the literature that associates PEComas with a TSC1 abnormality. Additionally, the pulmonary manifestations, including imaging appearance and pneumothorax, somewhat resembled those of lymphangioleiomyomatosis, a representative disease belonging to the PEComa family. Although PEComas are rare, clinicians, radiologists and pathologists should become aware of this disease entity, especially in the combined clinical setting of multiple cystic, cavity-like, nodular lesions on computed tomography of the chest and a past history of the tumor in the female reproductive system. [ABSTRACT FROM AUTHOR]

Spontaneous pneumothorax is a common manifestation of Birt–Hogg–Dubé (BHD) syndrome, an inherited disorder caused by mutation of the folliculin (FLCN) gene. A 44-year-old female with a history of breast cancer was diagnosed with recurrent pneumothorax. Chest CT showed multiple cysts with left lung pneumothorax, and she received surgery for the diagnosis. Because the patient also had a family history of spontaneous pneumothorax, a FLCN genetic examination was conducted. A novel heterozygous, likely pathogenic variant (NM_144997.5:c.779+2T > C) was detected in the proband, her mother, and aunt. This is the first report of a new mutation of FLCN gene in a BHD syndrome patient. [ABSTRACT FROM AUTHOR]

Abstract: We describe a 2 ½ year old boy presenting with fever, abdominal pain and splinter haemorrhages of the nails. On further examination there were signs of pneumonia with pleural effusion. This was treated with mini-thoracotomy, drainage and intravenous antibiotics. Further diagnostic workup for underlying causes showed diffuse cystic lung disease, suggestive of Langerhans cell histiocytosis. This was confirmed on pathology specimens, which showed Langerhans cells in lung tissue, nail bed and skin biopsy samples, indicating multisystem Langerhans cell histiocytosis. The patient was treated with Prednisone and Vinblastin according to the LCH-III guidelines. In this case report we give a brief description on cystic lung disease in children, Langerhans cell histiocytosis and associated nail abnormalities. [Copyright &y& Elsevier]

Birt-Hogg-Dube syndrome (BHDS) is a rare form of classically cystic lung disease that may present with spontaneous pneumothorax. The associated skin manifestations (fibrofolliculomas) are not always present. This article describes a case of spontaneous pneumothorax secondary to bullous emphysema in an otherwise healthy gentleman caused by a novel mutation in the folliculin ( FLCN ) gene. [ABSTRACT FROM AUTHOR]

The diffuse cystic lung diseases (DCLDs) are a pathophysiologically heterogeneous processes characterized by the presence of multiple thin-walled, air-filled spaces within the pulmonary parenchyma. The most common causes of DCLD are lymphangioleiomyomatosis (LAM) and pulmonary Langerhans cell histiocytosis (PLCH). DCLD develops rarely as a result of malignancy, typically secondary to metastases from peripheral sarcomas and mesenchymal tumors. DCLD have also been reported in a variety of other metastatic disease such as adenocarcinoma. Our case describes a patient with DCLD as a result of metastatic colorectal adenocarcinoma. [ABSTRACT FROM AUTHOR]

Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant disease which manifests with cutaneous hamartomas, lung cysts and renal carcinomas. A wide spectrum of phenotypic expression and few visible manifestations makes BHDS a likely under-recognized entity. Diffuse cystic lung disease (DCLD) is the typical pulmonary manifestation of BHDS, which in the absence of other specific findings carries a broad differential diagnosis. Unlike many other causes of DCLD, BHDS is not known to present with symptomatic pulmonary dysfunction. We report a typical case of BHDS with an atypical presentation – chronic progressive dyspnea. The unusual presentation provides an opportunity to discuss the differential for DCLD and highlights the importance of maintaining an index of suspicion for BHDS even when symptoms appear inconsistent with the diagnosis. Also examined is the management of BHDS patients and their immediate relatives, and recommendations for the treatment of obstructive sleep apnea (OSA) with continuous positive airway pressure (CPAP) given the potential risk of pneumothorax in this group. [ABSTRACT FROM AUTHOR]

Pulmonary Langerhans cell histiocytosis (PLCH) is a rare cystic lung disease. The natural history is often unpredictable making it difficult to diagnose. We report a 63-year-old male with dyspnoea, chronic cough and recurrent respiratory tract infections, who developed progressive multifocal cystic lesions on pulmonary nodule surveillance over 4 years. He was a heavy smoker with a history of multiple spontaneous pneumothoraces in his teens. Extensive investigations culminated in a thoracoscopic wedge resection, which identified histiocytic nodules staining positive for CD1a and thus confirming the diagnosis of PLCH. It is now apparent that PLCH was the likely cause of his pneumothoraces. • PLCH is difficult to diagnose due to its heterogeneous presentation and insidious natural history. • PLCH is a cause of recurrent pneumothoraces, and almost exclusively in smokers. • PLCH usually has innumerable cystic lesions that progress in a nodulocystic pattern. • CD1 antigen is characteristic of PLCH as it is uniquely expressed in Langerhans-like dendritic cells. • Smoking cessation is an effective first line monotherapy for PLCH. [ABSTRACT FROM AUTHOR]

Birt-Hogg-Dubé Syndrome (BHDS) is a rare autosomal dominant disease which manifests with cutaneous hamartomas, lung cysts and renal carcinomas. A wide spectrum of phenotypic expression and few visible manifestations makes BHDS a likely under-recognized entity. Diffuse cystic lung disease (DCLD) is the typical pulmonary manifestation of BHDS, which in the absence of other specific findings carries a broad differential diagnosis. Unlike many other causes of DCLD, BHDS is not known to present with symptomatic pulmonary dysfunction. We report a typical case of BHDS with an atypical presentation - chronic progressive dyspnea. The unusual presentation provides an opportunity to discuss the differential for DCLD and highlights the importance of maintaining an index of suspicion for BHDS even when symptoms appear inconsistent with the diagnosis. Also examined is the management of BHDS patients and their immediate relatives, and recommendations for the treatment of obstructive sleep apnea (OSA) with continuous positive airway pressure (CPAP) given the potential risk of pneumothorax in this group., Competing Interests: The authors have no conflicts of interest to disclose., (© 2021 The Author(s).)