IgG4-related disease (IgG4-RD) is a recently recognized systemic disease characterized by tumefactive lesions in various organ systems. The list of organs that can be involved continues to expand, and recently computed tomography (CT) descriptions of the pulmonary lesions found in the disease have been described. The clinical symptoms are nonspecific and may include cough, dyspnea, chest pain, and fever. The appropriate clinical presentation along with elevated serum IgG4 concentrations and pathologic evidence of lymphoplasmacytic infiltrates with abundant IgG4-positive plasma cells and storiform fibrosis is consistent with the disease. Steroids are used to treat this disease in addition to immunosupressives such as cyclosporine or rituxumab for steroid refractory disease. The pulmonary manifestations and imaging features can often mimic malignancy, and as such knowledge of the diagnostic, clinicopathologic, and radiographic features of the disease is required in order to provide appropriate diagnostic workup and treatment.
A non-smoking 45-year-old white man presented with a globus sensation worsened by lying down, with no complaints of hoarseness or dysphonia. He denied fever, fatigue, cough, chest pain, sweats, weight loss, reflux, arthralgias, myalgias and rash. He also denied exposure to asbestosis, beryllium, silica, HIV or tuberculosis, but he reported a recent cat bite. Physical examination revealed normal vital signs, no cervical or supraclavicular lympadenopathy and a normal cardiorespiratory system. He was referred to the otolaryngology department. Laryngoscopy revealed right vocal cord paralysis. A CT scan of the neck/chest identified diffuse mediastinal lymphadenopathy without parenchymal changes (figures 1 and 2).A purified protein derivative test was negative. Endobronchial ultrasound (EBUS)-directed transbronchial needle aspirations (TBNA) were performed of the paratracheal and subcarinal lymph nodes (figure 3). Diagnostic bronchoscopy revealed no endobronchial lesions or mucosal abnormalities. Acid-fast bacilli studies were negative and flow cytometry detected no monoclonal lymphocytes. Bacterial and fungal cultures, cryptococcal/ histoplasma antigen, HIV and Bartonella serology were negative. ACE was 31 U/l (reference range 9e67 U/l). Pulmonary function testing revealed mild decreased diffusion capacity but was otherwise normal. Empirical steroid therapy failed to provide benefit and mediastinoscopic right paratracheal lymphadenectomy was subsequently conducted (figure 4). QUESTION What is the diagnosis?See page
Cryotherapy probe biopsy should be considered a safe and effective approach to diagnose carcinoid tumors.
INTRODUCTION:Neurofibromatosis type I (NF-1) is a rare disorder that affects multiple organs, with cutaneous findings being the most well-known. It is an autosomal dominant disease caused by dysplasia of ectoderm and mesoderm with variable expression [1]. NF is characterized by a collection of neurofibromas, café au lait spots, and Lisch nodules. Neurofibromatosis is a rare disease and only 10-20% of the cases have associated diffuse lung disease (NF-DLD). Thus, many of the specific characteristics have yet to be elucidated [2].CASE PRESENTATION: A 50-year-old white man with NF-1 diagnosed by skin biopsy 2 years ago was seen by his PCP due to worsening shortness of breath associated with a productive cough. Levofloxacin was ordered, but 5 days later symptoms persisted so he was referred to the ED.He reported a prior tube thoracostomy after spontaneous right-sided pneumothorax.Family history was remarkable for neurofibromatosis in his mother and spontaneous pneumothorax in his brother. However, his brother does not have any of the cutaneous findings consistent with NF.He is a former smoker with a 20 pack-year history, quitting a month before admission. He works in a furniture company with exposure to wood dust and chemical fumes for more than 30 years.He denies any fever, chills, chest pain, or weight change. Denies any sick contacts.Physical examination demonstrated no respiratory distress. He had mild bibasilar crackles and multiple neurofibromas throughout his body, more so on his back. SARS-CoV-2, influenza A, influenza B, RSV PCR were all negative. Chest x-ray demonstrated peripheral interstitial opacities. He was started on empiric antibiotic coverage for community-acquired pneumonia. Chest CT showed evidence of upper lobe predominant cystic disease and pulmonary reticular abnormalities in the lower lobes consistent with neurofibromatosis associated diffuse lung disease. Centrilobular emphysema and mild bronchiectatic changes were also noted. He was started on bronchodilators with a 5day course of prednisone. Respiratory status returned to baseline and he was discharged with a LABAþLAMA inhaler and followup with the pulmonary clinic. DISCUSSION:The exact prevalence of NF-DLD is unknown. Based on the limited case reports, NF-DLD is more predominant in men, occurring during the third or fourth decade of life with dyspnea being the more common presenting symptom. Whether smoking plays a role in NF-DLD is still unknown. The typical HRCT finding in NF-DLD is upper-lobe cystic and bullous disease with basilar interstitial lung disease. HRCT results demonstrate bibasilar reticular opacities 50%, bullae 50%, ground-glass opacities 37%, cysts, and emphysema 25% [3].CONCLUSIONS: NF-DLD is considered one of the rare etiologies of cystic lung disease characterized by upper lobe cystic and bullous disease and lower lobe interstitial changes.
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