Adult-onset Still\'s disease (AOSD) is a rare auto-inflammatory disorder with unknown pathophysiology. Although having a heterogeneous clinical spectrum, the major features of AOSD include fever, rash, and arthritis or arthralgia. Neurological involvement is rare in AOSD with aseptic meningitis being the most common presentation. Guillain-Barre syndrome (GBS) has never been reported as an early presentation of AOSD. Herein, we describe the case of a patient presenting with GBS and fever of unknown origin who was soon diagnosed with AOSD and improved with corticosteroid therapy.

Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a hostile cutaneous malignancy with dismal prognosis and unknown etiology with rarity. Most patients received traditional chemotherapy only has one year of median survival time. This article reports an 81-year-old male patient with BPDCN who presented with skin manifestations and was diagnosed with positive CD4, CD56, and CD123 immunohistochemical results. Systematic examination revealed lung involvement and cytopenia.

COVID-19 is a pandemic disease, mainly affecting the respiratory tract, triggering an inflammatory cascade complicated by multiorgan failure up to death. Among the tested medications for this disease, tocilizumab appears to act directly on the inflammatory cascade, improving COVID-19 outcomes. For this reason, we have tested the efficacy of tocilizumab on lung damage using chest computed tomography (CT).
The study was conducted on twenty-one hospitalised COVID-19 patients between March-June 2020. Patients were divided into 2 groups according to the therapies administered (TCZ group= treatment with tocilizumab and NTZ group= other therapies). At admission, TCZ group presented worse laboratory test values, respiratory profile (PaO2/FiO2 ratio: 145.37±38.16 mmHg vs 257.9±95.3 mmHg of NTZ group, P<0.01) and radiological signs (multifocal opacity at chest-X-ray: 88% vs 23% of NTZ group, P<0.01). After performing chest CT during the clinical recovery, the scans of the 2 groups were compared and we observed that some features (e.g., ground glass opacity, consolidation and parenchymal bands) were less marked in the TCZ group.
In our study, patients treated with tocilizumab presented a worse overall clinical and radiological profile at admission, but the control CT showed a similar imaging profile to patients treated with standard therapy. Based on this evidence, we may suggest that tocilizumab plays an important role in COVID-19 patients in reducing lung inflammation.

Neoplasms induced by human papillomavirus (HPV) infection are generally associated to high-risk HPV types. Recurrent respiratory papillomatosis (RRP) is a rare and chronic HPV-related disease characterized by papillomatous lesions in the respiratory tract, usually affecting larynx. RRP rarely comprises malignant transformation since the low-risk HPV-6 and/or HPV-11 are the most commonly found in the disease. We described a case of one adult-onset RRP (29-year-old, female) with HPV-6 infection affecting vocal folds and extra-laryngeal sites. Computed tomographic scan of the chest revealed papillomatosis with pulmonary spread showing multiple nodules and cavities. Lung involvement later progressed to squamous cell carcinoma of the lung. Patient\'s pregnancy during investigations may have accelerated lung carcinoma development due to immunological changes. Immunohistochemistry revealed PD-L1 high expression in tumor biopsy and, after pregnancy, the oncology treatment included a combination of pembrolizumab (PD-L1 inhibitor) to chemotherapy and also radiotherapy, showing considerable results. Patient died due to lung cancer complications 15 months after cancer diagnosis. RRP management associated with lung involvement and poor prognostic outcome, such as lung carcinoma, is still a big challenge. In this report, we described the clinical and treatment course of RRP progression to highlight the need for attention to future patients.

A 39-year-old man was admitted to our university hospital because of diffuse pulmonary infiltrates on chest X-ray. He had been diagnosed with T-acute lymphoblastic leukaemia/lymphoblastic lymphoma three years before and had been treated with chemotherapy and cord blood stem cell transplantation twice. Although he had neither blast cells in the peripheral blood nor leucocytosis, urgent bronchoscopy findings demonstrated blast cells invading both the alveolar spaces/alveolar septa and the vein walls. These pathological findings corresponded to ground-glass opacities and thickening of the interlobular septa on thoracic computed tomography (CT). In acute lymphoblastic leukaemia/lymphoblastic lymphoma patients presenting with infiltrates on thoracic CT, leukaemic pulmonary involvement should be considered in the differential diagnoses, even in the absence of hyperleucocytosis or blast cells in the blood, similar to pulmonary involvement in myeloid leukaemias.

Extranodal natural killer (NK)/T-cell lymphoma, nasal type (ENKTCL) is a rare type of lymphoma that accounts for only 5%-18% of all cases of non-Hodgkin lymphoma (NHL). In published series, 60%-90% of NK/T-cell lymphomas are localized to the nasal and upper airway. We describe a 55-year man who presented with cough, sputum, dyspnea on exertion, and a chest computed tomography scan shows diffuse ground glass opacities (GGOs), suggestive of an interstitial lung disease. He was treated with a corticosteroid and his symptoms improved. However, when the corticosteroid was tapered, his symptoms recurred. The patient underwent a surgical lung biopsy and ENKTCL was diagnosed. We present this case because ENKTCL involving only the lung is very rare but very informative. To our knowledge, our patient is the first case that primary pulmonary ENKTCL is presented with GGOs.

Niemann-Pick disease type C (NPC) is a rare, progressive autosomal recessive disease. It is caused by mutations in either the NPC1 or NPC2 genes, resulting in defective regulation of intracellular lipid trafficking. Miglustat, which reversibly inhibits glucosylceramide synthase, reportedly has beneficial effects on the progressive neurological symptoms of NPC and was approved in Japan in 2012. Some reports suggested that miglustat therapy delayed the onset or progression of NPC when treatment was initiated before the onset of neurological manifestation or at an early stage. We report here a patient with the early-infantile form of NPC who started on miglustat at 4months of ages. To our knowledge, this patient is the youngest reported patient with NPC in which miglustat therapy was initiated. Our patient, who had hypotonia and developmental delay before treatment, remained stable and showed no new neurological symptoms. In addition, pulmonary involvement was improved during miglustat therapy. Our case and previous reports underscore the importance of early initiation of miglustat therapy for NPC.

BACKGROUND: Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ~5% cases are linked with NPC2 gene.
METHODS: Case-1, a 14-months-old female presented with recurrent respiratory distress, failure to thrive and hepatosplenomegaly. Lung biopsy was suggestive of alveolar proteinosis and liver biopsy confirmed foamy macrophages. Molecular analysis revealed homozygous mutation c.141C > A in exon 2 of NPC2 gene. Case-2, a 3-year-old male presented with dyspnoea and hepatomegaly noticed at 1 year of age. HRCT-scan of thoracic region showed consolidation with mediastinal lymphadenopathy. Broncho-alveolar lavage revealed moderate amount of foamy macrophages and bone marrow examination detected foam cells. Homozygous T > C transition in intron 1 of the NPC2 gene was identified.
CONCLUSIONS: Our study demonstrates that NPC2 can present in early years of life with pulmonary complications like alveolar proteinosis and hepatosplenomegaly or hepatomegaly due to mutation in NPC2 gene. An early suspicion will help clinicians to clinch its diagnosis, management and genetic counselling.

Extranodal NK/T cell lymphoma, nasal type, is an Epstein-Barr virus-associated lymphoma that most commonly involves the nasal cavity and upper respiratory tract. Lung involvement by NK/T cell lymphoma is rare and seldom reported in the literature. We describe the unusual case of a 41-year-old male with NK cell lymphoma, nasal type, who presented with massive secondary lung involvement 2.5 years after the detection of a retroperitoneal mass. The diagnosis was made by open lung biopsy. Despite aggressive treatment, the patient died shortly after the initiation of therapy. Lung involvement by NK/T cell lymphoma occurs most commonly as part of widely disseminated disease and carries a poor prognosis for the patient. Novel agents and innovative therapies need to be developed for this aggressive lymphoma.