Langerhans Cell Histiocytosis (LCH) is a rare disorder characterized by the abnormal proliferation of histiocytes, predominantly affecting the bones and skin. However, it can also involve the bone marrow, liver, spleen, lungs, pituitary gland, central nervous system, and other organs. The disorder is named for the neoplastic cells that resemble dendritic Langerhans cells found in the skin and mucosa.

We present the case of a 2-year-old Filipino female diagnosed with recurrent LCH, highlighting the diagnostic challenges and therapeutic interventions encountered. The patient initially presented with characteristic papules and plaques indicative of LCH. Initial treatment involved multi-agent chemotherapy, which resulted in significant clinical improvement. However, following the cessation of therapy, the patient experienced recurrence of symptoms, necessitating reevaluation. A skin punch biopsy confirmed the diagnosis of LCH, reinforcing the decision to reinitiate chemotherapy. Complications arose during treatment, including febrile neutropenia, which required hospitalization and adjustments to the management plan. After completing the chemotherapy cycles, the patient demonstrated marked clinical improvement, with the resolution of systemic symptoms and a reduction in the severity of cutaneous lesions.

This case underscores the complexities in managing recurrent LCH in pediatric patients. A comprehensive diagnostic evaluation, vigilant monitoring for treatment-related complications, and prompt therapeutic interventions are critical for achieving optimal outcomes. Effective management requires a multidisciplinary approach to address the unique challenges presented, ensuring timely interventions to improve patient outcomes.

Langerhans cell histiocytosis (LCH) is an inflammatory myeloid neoplasia affecting children 2-5 years old. The clinical presentation ranges from self-resolving localized disease to fulminant, fatal disseminated disease. While the most common presentation of LCH are small, translucent crusted papules on the trunk, intertriginous areas, and scalp, it may present as crusted plaques and alopecia. A 3-year-old male presented with a 4-month history of solitary, well-defined, hyperpigmented plaque with yellow-brown crust on the left parieto-occipital area of the scalp measuring 1.5 x 1.5 cm and a solitary, well-defined, hairless patch with areas of erythema on the left parieto-occipital area measuring 5.0 x 6.0 cm. Scalp biopsy revealed diffuse collection of lymphohistiocytes interspersed with distinct kidney bean-shaped cells. CD1a is positive for cells of interest. Skeletal survey revealed lytic lesions involving the skull, thoracic cage, spine, pelvis, and upper and lower extremities. The rest of the physical examination findings revealed lymphadenopathy, crackles, globular abdomen with right and left upper quadrant dullness. The patient had episodes of fever, difficulty of breathing, and abdominal pain. The patient received chemotherapy as multisystem LCH based on prednisone and vinblastine. Following 3 courses of chemotherapy, there is noted hair regrowth and sloughing off of crust.

INTRODUCTION: Exposure to chemical agents in salon products, such as ammonia and formaldehyde, poses significant respiratory health risks for hairdressers. This study aimed to assess the prevalence of Diffuse Parenchymal Lung Disease Patterns (DPLD) observed in chest X-rays of hairdressers in the National Capital Region and to document their reported respiratory symptoms. METHODS: An analytical, cross-sectional study was conducted involving 100 hairdressers who underwent plain chest X ray examinations to identify any of the 12 recognized DPLD patterns. Participants also accomplished a self administered questionnaire detailing their demographic information, working conditions, health histories and current respiratory symptoms. RESULTS: Thirty nine percent of participants showed DPLD patterns on chest X-rays, primarily fine reticular opacities (69.23%) and coarse reticular opacities (25.64%). Positive associations (RR>1) were linked to over five years of work, lack of PPE, daily exposure to hair iron steam, respiratory symptoms, and salon vapor exposure of exceeding five hours daily. Symptoms reported included shortness of breath (27%) and throat irritation (15%). Logistic regression confirmed a significant link between DPLD and positive respiratory symptoms. CONCLUSION This study highlights the risk of structural lung abnormalities and respiratory symptoms among hairdressers, emphasizing the need for improved workplace safety, consistent PPE use and routine medical screenings to reduce occupational health risks.
Human ; Lung diseases, interstitial

BACKGROUND: The presence of fibrosis is a criterion for subtype classification in the newly updated hypersensitivity pneumonitis (HP) guidelines. The present study aimed to summarize differences in clinical characteristics and prognosis of non-fibrotic hypersensitivity pneumonitis (NFHP) and fibrotic hypersensitivity pneumonitis (FHP) and explore factors associated with the presence of fibrosis. METHODS: In this prospective cohort study, patients diagnosed with HP through a multidisciplinary discussion were enrolled. Collected data included demographic and clinical characteristics, laboratory findings, and radiologic and histopathological features. Logistic regression analyses were performed to explore factors related to the presence of fibrosis. RESULTS: A total of 202 patients with HP were enrolled, including 87 (43.1%) NFHP patients and 115 (56.9%) FHP patients. Patients with FHP were older and more frequently presented with dyspnea, crackles, and digital clubbing than patients with NFHP. Serum levels of carcinoembryonic antigen, carbohydrate antigen 125, carbohydrate antigen 153, gastrin-releasing peptide precursor, squamous cell carcinoma antigen, and antigen cytokeratin 21-1, and count of bronchoalveolar lavage (BAL) eosinophils were higher in the FHP group than in the NFHP group. BAL lymphocytosis was present in both groups, but less pronounced in the FHP group. Multivariable regression analyses revealed that older age, <20% of lymphocyte in BAL, and ≥1.75% of eosinophil in BAL were risk factors for the development of FHP. Twelve patients developed adverse outcomes, with a median survival time of 12.5 months, all of whom had FHP. CONCLUSIONS Older age, <20% of lymphocyte in BAL, and ≥1.75% of eosinophil in BAL were risk factors associated with the development of FHP. Prognosis of patients with NFHP was better than that of patients with FHP. These results may provide insights into the mechanisms of fibrosis in HP.
Humans ; Bronchoalveolar Lavage Fluid ; Prospective Studies ; Alveolitis, Extrinsic Allergic/diagnosis* ; Fibrosis ; Carbohydrates

Langerhans cell histiocytosis (LCH) is a group of unexplainable abnormal proliferation and aggregation of Langerhans cell. LCH can be classified into four clinical variants: Letterer-Siwe disease, Hand-Schüller-Christian disease, eosinophilic granuloma, and congenital self-healing LCH. LCH is most prevalent in children. Lesions can be localized in a single system or multiple organs, and clinical manifestations vary depending on the affected organs. The skin and mucocutaneous tissues are the starting point of the affected tissue. This study presents a LCH case characterized by transient self-healing. This case can further provide references for the clinical diagnosis and treatment of LCH.
Child ; Humans ; Histiocytosis, Langerhans-Cell/therapy* ; Diagnosis, Differential

Idiopathic pulmonary fibrosis (IPF) is a progressive scar-forming disease with a high mortality rate that has received widespread attention. Epithelial mesenchymal transition (EMT) is an important part of the pulmonary fibrosis process, and changes in the biomechanical properties of lung tissue have an important impact on it. In this paper, we summarize the changes in the biomechanical microenvironment of lung tissue in IPF-EMT in recent years, and provide a systematic review on the effects of alterations in the mechanical microenvironment in pulmonary fibrosis on the process of EMT, the effects of mechanical factors on the behavior of alveolar epithelial cells in EMT and the biomechanical signaling in EMT, in order to provide new references for the research on the prevention and treatment of IPF.
Humans ; Epithelial-Mesenchymal Transition ; Idiopathic Pulmonary Fibrosis ; Signal Transduction

The patient is a female infant, 4 months and 9 days old, who was admitted to the hospital due to recurrent fever, cough, and hepatomegaly for over a month. The patient was a healthy full-term infant with a normal birth history. At 2 months and 22 days after birth, she developed recurrent fever, cough, and respiratory distress. Chest imaging revealed diffuse bilateral lung lesions, and fiberoptic bronchoscopy showed interstitial changes in both lungs. These suggested the presence of interstitial lung disease. The patient also presented with hepatomegaly, anemia, hyperlipidemia, hypothyroidism, and malnutrition. Genetic testing indicated compound heterozygous variations in the MARS1 gene. This mutation can cause interstitial lung and liver disease, which is a severe rare disorder that typically manifests in infancy or early childhood. It is inherited in an autosomal recessive manner and characterized by early-onset respiratory insufficiency and liver disease in infants or young children. Since its first reported case in 2013, as of June 2023, only 38 related cases have been reported worldwide. This article reports the multidisciplinary diagnosis and treatment of interstitial lung and liver disease in an infant caused by MARS1 gene mutation.
Female ; Humans ; Infant ; Cough ; Hepatomegaly/pathology* ; Liver Diseases ; Lung/pathology* ; Lung Diseases, Interstitial/pathology* ; Mutation

A 54-year-old, non-smoking woman was diagnosed as stage ⅣB adenocarcinoma with widespread bone metastasis (cT4N2M1c) in the First Affiliated Hospital, Zhejiang University School of Medicine. Immunohistochemistry result showed the presence of anaplastic lymphoma kinase (ALK) gene rearrangement; next-generation sequencing (NGS) indicated EML4-ALK fusion (E6:A20) with concurrent CCDC148-ALK (C1:A20), PKDCC-ALK (Pintergenic:A20)and VIT-ALK (V15:A20) fusions. After 32 weeks of alectinib treatment, the patient complained cough and exertional chest distress but had no sign of infection. Computed tomography (CT) showed bilateral diffuse ground glass opacities, suggesting a diagnosis of alectinib-related interstitial lung disease (ILD). Following corticosteroid treatment and discontinuation of alectinib, clinical presentations and CT scan gradually improved, but the primary lung lesions enlarged during the regular follow-up. The administration of crizotinib was then initiated and the disease was stable for 25 months without recurrence of primary lung lesions and ILD.
Female ; Humans ; Middle Aged ; Carcinoma, Non-Small-Cell Lung/drug therapy* ; Crizotinib/therapeutic use* ; Lung Neoplasms/drug therapy* ; Anaplastic Lymphoma Kinase/therapeutic use* ; Lung Diseases, Interstitial/diagnosis*

BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is an idiopathic chronic, progressive interstitial lung disease with a diagnosed median survival of 3-5 years. IPF is associated with an increased risk of lung cancer. Therefore, exploring the shared pathogenic genes and molecular pathways between IPF and lung adenocarcinoma (LUAD) holds significant importance for the development of novel therapeutic approaches and personalized precision treatment strategies for IPF combined with lung cancer. METHODS: Bioinformatics analysis was conducted using publicly available gene expression datasets of IPF and LUAD from the Gene Expression Omnibus (GEO) database. Weighted gene co-expression network analysis was employed to identify common genes involved in the progression of both diseases, followed by functional enrichment analysis. Subsequently, additional datasets were used to pinpoint the core shared genes between the two diseases. The relationship between core shared genes and prognosis, as well as their expression patterns, clinical relevance, genetic characteristics, and immune-related functions in LUAD, were analyzed using The Cancer Genome Atlas (TCGA) database and single-cell RNA sequencing datasets. Finally, potential therapeutic drugs related to the identified genes were screened through drug databases. RESULTS: A total of 529 shared genes between IPF and LUAD were identified. Among them, SULF1 emerged as a core shared gene associated with poor prognosis. It exhibited significantly elevated expression levels in LUAD tissues, concomitant with high mutation rates, genomic heterogeneity, and an immunosuppressive microenvironment. Subsequent single-cell RNA-seq analysis revealed that the high expression of SULF1 primarily originated from tumor-associated fibroblasts. This study further demonstrated an association between SULF1 expression and tumor drug sensitivity, and it identified potential small-molecule drugs targeting SULF1 highly expressed fibroblasts. CONCLUSIONS This study identified a set of shared molecular pathways and core genes between IPF and LUAD. Notably, SULF1 may serve as a potential immune-related biomarker and therapeutic target for both diseases.
Humans ; Lung Neoplasms/genetics* ; Adenocarcinoma of Lung/genetics* ; Idiopathic Pulmonary Fibrosis/genetics* ; Adenocarcinoma ; Cancer-Associated Fibroblasts ; Prognosis ; Tumor Microenvironment ; Sulfotransferases

Idiopathic pulmonary fibrosis (IPF) is a progressive and fatal interstitial lung disease, the cause is not yet clear. Pathological manifestations are abnormal repair changes resulting from sustained lung injury. Macrophages have been identified as playing a key role in IPF pathogenesis. In different local microenvironments, macrophages can exhibit either classically activated (M1) or alternately activated (M2) phenotypes. M1 plays a key role in promoting inflammatory response and is involved in the process of causing alveolar tissue injury. M2 is involved in wound healing and stopping lung inflammation. Previous studies have shown that activation of 5-hydroxytryptamine (5-HT) signaling is enhanced in pulmonary fibrosis and that 5-HT receptors play an important role in the observed pro-fibrotic effects. As a multifunctional signaling molecule, 5-HT is closely related to lung macrophage polarization, early lung tissue injury, abnormal proliferation and repair, and late extracellular matrix (ECM) deposition. This article reviewed the role of 5-HT and M2 macrophages in the pathogenesis of IPF and the possible regulatory mechanism of 5-HT, in order to provide a reference for further research.
Humans ; Serotonin ; Macrophages ; Lung Diseases, Interstitial/pathology* ; Lung/pathology* ; Idiopathic Pulmonary Fibrosis ; Fibrosis