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Radiology Case Reports Sep 2021Langerhans Cell Histiocytosis (LCH) is a rare disorder sometimes called the disorder of the "monocyte-macrophage system". This condition is characterized by the...
Langerhans Cell Histiocytosis (LCH) is a rare disorder sometimes called the disorder of the "monocyte-macrophage system". This condition is characterized by the proliferation of abnormal Langerhans cells within different tissues. Skin rash is the typical early feature, but bony involvement is the second most common presentation. The most common complications are musculoskeletal disabilities, hearing problems, skin scarring, neuropsychiatric defects and most importantly, progression to secondary malignancies like leukemia. Early recognition and treatment can reduce morbidity and mortality. Herein, we report a case of a 10-year-old male presenting with a tender, palpable mass in the lower limb. On initial imaging, a lesion involving the diaphysis of the fibula was observed, raising concerns of Ewing sarcoma. Biopsy was planned along with whole-body MRI, revealing multifocal single system Langerhans cell histiocytosis. Given the rarity of fibular involvement in LCH, distinguishing between LCH and common malignancies within this age-group can be challenging. Through this case report, we hope to emphasize the importance of considering LCH in the differential diagnosis to ensure a timely diagnosis, fitting treatment and improvement in prognosis of the condition.
PubMed: 34336078
DOI: 10.1016/j.radcr.2021.06.052 -
Cureus Jan 2021Indeterminate cell histiocytosis (ICH) is a rare proliferative disorder of histiocytes, which display morphologic and immunophenotypic characteristics of both Langerhans...
Indeterminate cell histiocytosis (ICH) is a rare proliferative disorder of histiocytes, which display morphologic and immunophenotypic characteristics of both Langerhans cell histiocytosis (LCH) and non-Langerhans cell histiocytosis (NLCH). We describe an unusual clinical presentation of ICH mimicking rosacea and provide a relevant review of the literature.
PubMed: 33628700
DOI: 10.7759/cureus.12850 -
Deutsches Arzteblatt International Oct 2022
Topics: Humans; Cholangitis, Sclerosing; Histiocytosis, Langerhans-Cell
PubMed: 36594344
DOI: 10.3238/arztebl.m2022.0123 -
Journal of the Belgian Society of... Oct 2020Multiple osteolytic calvarial lesions in a child raise suspicion of Langerhans cell histiocytosis.
Multiple osteolytic calvarial lesions in a child raise suspicion of Langerhans cell histiocytosis.
PubMed: 33134817
DOI: 10.5334/jbsr.2245 -
American Journal of Hematology Feb 2022Adult Langerhans cell histiocytosis (LCH) remains poorly defined. We retrospectively studied 266 newly diagnosed LCH patients to understand the clinical presentation,...
Adult Langerhans cell histiocytosis (LCH) remains poorly defined. We retrospectively studied 266 newly diagnosed LCH patients to understand the clinical presentation, treatment, and prognosis of adult LCH. The median age at diagnosis was 32 years (range, 18-79 years). At the time of diagnosis, 40 patients had single lesions within a single system, 18 patients had single pulmonary LCH, 26 patients had multiple lesions within a single system (SS-m), and 182 patients had multisystem disease (MS). The most common organ involved in MS patients was the bone (69.8%), followed by the pituitary (61.5%) and lung (61.0%). BRAF , BRAF deletion, and MAP2K1 mutation were detected in 38.8%, 25.4%, and 19.4% patients, respectively. BRAF deletion was found more common in patients with MS LCH compared to single-system LCH (38.5% vs 7.1%, p = .004), also in patients with liver involvement (69.2% vs 14.3%, p < .001). The estimated 3-year overall survival (OS) and event-free survival (EFS) rates were 94.4% and 54.7%, respectively, in SS-m and MS LCH. Multivariate Cox regression showed that involvement of the liver or spleen at baseline predicted poor EFS and receiving cytarabine-based therapy as a first-line treatment and age older than 30 years at diagnosis predicted favorable EFS. The involvement of risk organs and age older than 50 years predicted poor OS, and receiving cytarabine-based therapy predicted favorable OS. Therefore, BRAF deletion was correlated with MS LCH, particularly those with liver involvement. Liver or spleen involvement at baseline indicates a poor prognosis, and a cytarabine-based regimen could be considered as first-line treatment for adult LCH patients.
Topics: Adult; Aged; Cytarabine; Female; Histiocytosis, Langerhans-Cell; Humans; Immunosuppressive Agents; Male; Middle Aged; Prognosis; Retrospective Studies; Survival Analysis; Treatment Outcome; Young Adult
PubMed: 34797941
DOI: 10.1002/ajh.26412 -
Biomedica : Revista Del Instituto... Sep 2021Histiocytosis comprises a heterogeneous group of inflammatory diseases whose main cellular components are dendritic cells and macrophages. The inflammatory infiltrate... (Review)
Review
Histiocytosis comprises a heterogeneous group of inflammatory diseases whose main cellular components are dendritic cells and macrophages. The inflammatory infiltrate can affect the skin and other organs and the clinical outcome varies from mild to fatal depending on the involved cell subset and multisystemic compromise. Delay in diagnosis may occur due to its non-specific presentation and to a low suspicion on the part of the clinician. We report the case of an infant who despite multiple consultations with nonspecific but characteristic symptoms of the disease was only finally diagnosed thanks to histopathological findings.
Topics: Histiocytosis, Langerhans-Cell; Humans; Skin
PubMed: 34559487
DOI: 10.7705/biomedica.5430 -
PloS One 2021The prevalence of psychological symptoms and the co-occurrence of substance abuse disorders in adult patients with Langerhans cell histiocytosis (LCH) has not been...
BACKGROUND
The prevalence of psychological symptoms and the co-occurrence of substance abuse disorders in adult patients with Langerhans cell histiocytosis (LCH) has not been previously explored. We aimed to use validated scales to evaluate depression and anxiety symptoms experienced by adult LCH patients.
METHODS
In this cross-sectional study, all consecutive adult LCH patients seen at our national reference center between January 2012 and January 2013 were asked to complete the following instruments: the Hospital Anxiety and Depression scale (HADS); Barratt Impulsiveness Scale, Version 10 (BIS-10); and Cannabis Use Disorders Identification Test (CUDIT). Self-reported scores on these scales were used to determine the point prevalence of clinically significant psychological symptoms and substance use disorders in LCH patients. Patient profiles in terms of psychological features were assessed by principal component analysis including the HADS and BIS-10 instruments values, followed by hierarchical clustering. Fisher exact tests and Wilcoxon tests were used to examine the associations between disease-related parameters and high levels of anxiety and impulsivity.
RESULTS
Seventy-one adult LCH patients, mainly with pulmonary LCH (PLCH), completed the evaluations. Clinically significant anxiety and depression symptoms were reported by 22 (31%) and 4 (6%) subjects, respectively. Impulsivity was detected in 14% (10/71) of the patients. Seventeen percent (12/71) of the patients used cannabis on a regular basis, with 50% of these individuals (6/12) exhibiting scores consistent with cannabis use disorder. Three derived clusters of patients were identified in the principal component analysis; these patient clusters differed in successful weaning from tobacco at the time of evaluation (p = 0.03). In univariate analyses, isolated PLCH and the use of psychotropic treatments were statistically associated with clinically significant anxiety symptoms.
CONCLUSIONS
High levels of anxiety and impulsivity are common in adult patients with LCH. The consequences of these symptoms for the management of LCH patients warrant further evaluation.
Topics: Adult; Anxiety; Comorbidity; Cross-Sectional Studies; Depression; Female; France; Histiocytosis, Langerhans-Cell; Humans; Male; Marijuana Smoking; Middle Aged; Principal Component Analysis
PubMed: 33577606
DOI: 10.1371/journal.pone.0246604 -
Journal of Neurosurgery. Case Lessons Jul 2023This is a case of aggressive Langerhans cell histiocytosis (LCH) with an atypical intracranial location.
BACKGROUND
This is a case of aggressive Langerhans cell histiocytosis (LCH) with an atypical intracranial location.
OBSERVATIONS
In this report, the authors present the diagnosis and treatment of a 12-year-old male patient diagnosed with LCH. The patient was admitted to the emergency department with left-sided facial palsy, and a solid lesion with mass effect in the pons was found. A biopsy was performed via suboccipital craniotomy, and the diagnosis was LCH. A chemotherapy regimen was started since the LCH sample was the resistant type. The patient showed improvement in his neurological deficit following treatment.
LESSONS
This rare localized and aggressive case's diagnosis process and treatment choices may apply to future cases.
PubMed: 37548554
DOI: 10.3171/CASE22367 -
European Journal of Case Reports in... 2023While primarily described in children, adult-onset Langerhans cell histiocytosis (LCH) has been reported, albeit infrequently. In the present scenario, we unveil a...
UNLABELLED
While primarily described in children, adult-onset Langerhans cell histiocytosis (LCH) has been reported, albeit infrequently. In the present scenario, we unveil a unique case of adult-onset LCH in an HIV-infected individual. After the diagnosis was made, the patient was successfully treated and demonstrated total disease remission. This case illustrates the diagnostic challenge that rare clinical entities such as LCH pose, especially in the context of an untreated HIV infection. Furthermore, the complexity of treating adult-onset Langerhans cell histiocytosis in an HIV-positive patient is highlighted, with emphasis given on a multidisciplinary approach.
LEARNING POINTS
Novelty: the case study provides knowledge on the uncommon occurrence of LCH in adults, especially within the setting of untreated HIV infection, underlining the significance of prompt detection and medical treatment.Diagnostic challenges: The scenario depicts the difficulty in diagnosing LCH in the presence of HIV, necessitating an array of diagnostic procedures.Multidisciplinary approach: This case's effective management emphasises the crucial role of a multidisciplinary approach when dealing with complex medical conditions.
PubMed: 38077705
DOI: 10.12890/2023_004168 -
Chest Aug 2022Lymphangioleiomyomatosis (LAM) and pulmonary Langerhans cell histiocytosis (PLCH) are cystic lung diseases in which a neoplastic cell is thought to be responsible for...
BACKGROUND
Lymphangioleiomyomatosis (LAM) and pulmonary Langerhans cell histiocytosis (PLCH) are cystic lung diseases in which a neoplastic cell is thought to be responsible for disease pathogenesis. The neoplastic LAM cell has mutations in the TSC genes, TSC1 or TSC2, whereas the neoplastic PLCH cell may have mutations in several genes (eg, BRAF, NRAS, MAP2K1). These mutations are not specific for PLCH and have been described in multiple cancers. TSC1 or TSC2 mutations and loss of heterozygosity (LOH) have also been described in cancers.
RESEARCH QUESTION
Is TSC2 LOH specific to LAM or is it also found in PLCH?
STUDY DESIGN AND METHODS
We recruited patients with LAM (n = 53) and healthy volunteers (n = 22) and compared the presence of cells with TSC2 LOH with patients with PLCH (n = 12). Blood and urine samples were collected for analysis. Fluorescence-activated cell sorting (FACS) was used to identify subpopulations of cells from blood and urine samples. We isolated CD45-CD235a-, CD45-CD235a+, and CD45+CD235a- cells from blood after density gradient separation. Cells were screened for TSC2 LOH at five microsatellites markers (ie, kg8, D16S3395, D16S3024, D16S521, D16S291). We obtained four cell subpopulations from urine (ie, CD44v6+CD9+, CD44v6+CD9-, CD44v6-CD9+, CD44v6-CD9-).
RESULTS
Using FACS, cells were isolated from blood and urine from patients with PLCH that showed TSC2 LOH. Healthy volunteers did not have cells with TSC2 LOH. As a control, cells isolated from blood and urine from patients with LAM gave results similar to those reported previously. These data show that TSC2 LOH is found in patients with cystic lung diseases with potential neoplastic characteristics, and in patients with cancer.
INTERPRETATION
The presence of TSC2 LOH in circulating cells is not specific for LAM. The data suggest that chromosomal abnormalities affecting the TSC2 gene are found in other diseases associated with cells having cancer-like neoplastic cells.
Topics: Histiocytosis, Langerhans-Cell; Humans; Loss of Heterozygosity; Lung Diseases; Lymphangioleiomyomatosis; Tuberous Sclerosis Complex 2 Protein; Tumor Suppressor Proteins
PubMed: 35231481
DOI: 10.1016/j.chest.2022.02.032