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The Journal of the Association of... May 2024Secondary spontaneous pneumothoraces occur in patients with known underlying lung disease. Patients with emphysema, bullae, and cystic lesions in the lungs are at high...
Secondary spontaneous pneumothoraces occur in patients with known underlying lung disease. Patients with emphysema, bullae, and cystic lesions in the lungs are at high risk of developing pneumothorax. Cystic lung diseases like Langerhans cell histiocytosis (LCH) can present with complications like pneumothorax. Other common presenting features include maculopapular rashes and bone lesions. It can also be associated with endocrinopathies, most commonly central diabetes insipidus (CDI). We here present a case of a 22-year-old male who presented with pneumothorax, polyuria, and polydipsia. He was diagnosed with LCH on transbronchial lung biopsy, associated with CDI, and was treated with thoracoscopy-guided autologous blood patch for persistent air leak and subcutaneous cytarabine.
Topics: Humans; Histiocytosis, Langerhans-Cell; Male; Pneumothorax; Young Adult; Diabetes Insipidus; Diabetes Insipidus, Neurogenic
PubMed: 38881118
DOI: 10.59556/japi.72.0541 -
JAAD Case Reports Jun 2024
PubMed: 38873574
DOI: 10.1016/j.jdcr.2024.04.018 -
Journal of the Korean Society of... May 2024Developmental dysplasia of the hip is a condition characterized by hip joint instability due to acetabular dysplasia in infancy, necessitating precise ultrasound... (Review)
Review
Developmental dysplasia of the hip is a condition characterized by hip joint instability due to acetabular dysplasia in infancy, necessitating precise ultrasound examination. Legg-Calvé-Perthes disease is caused by a temporary disruption in blood flow to the femoral head during childhood, progressing through avascular, fragmentation, re-ossification, and residual stages. Slipped capital femoral epiphysis is a condition where the femoral head shifts medially along the epiphyseal line during adolescence due to stress, such as weight-bearing. Differentiating between transient hip synovitis and septic arthritis may require joint fluid aspiration. Osteomyelitis can be associated with soft tissue edema and osteolysis. When multiple lesions are present, it is essential to distinguish between Langerhans cell histiocytosis and metastatic neuroblastoma. This review will introduce imaging techniques and typical findings for these conditions.
PubMed: 38873372
DOI: 10.3348/jksr.2024.0021 -
American Journal of Ophthalmology Case... Sep 2024We report a patient who initially visited the ophthalmology clinic for a vision loss diagnosed with Erdheim-Chester Disease (ECD).
PURPOSE
We report a patient who initially visited the ophthalmology clinic for a vision loss diagnosed with Erdheim-Chester Disease (ECD).
OBSERVATIONS
ECD is a rare non-Langerhans cell histiocytosis characterized by multisystemic organ involvement and poor prognosis. Our patient had complete vision loss due to prominent orbital involvement before any systemic symptoms appeared. This case demonstrates variable clinical manifestations of ECD.
CONCLUSIONS AND IMPORTANCE
Painless bilateral proptosis with poor response to steroid treatment should prompt consideration for ECD and systemic evaluation. In addition, in the absence of typical clinical manifestations, a thorough evaluation of the biopsy can be crucial for an accurate diagnosis.
PubMed: 38872875
DOI: 10.1016/j.ajoc.2024.102087 -
Case Reports in Gastroenterology 2024Langerhans cell histiocytosis (LCH) is a rare hematologic condition which can affect multiple organ systems and has variable presentation. LCH is more commonly seen as a...
INTRODUCTION
Langerhans cell histiocytosis (LCH) is a rare hematologic condition which can affect multiple organ systems and has variable presentation. LCH is more commonly seen as a malignancy of childhood. LCH in adulthood can have poor outcomes depending on the involvement of critical organs.
CASE PRESENTATION
We report a case of a 71-year-old female who presented with progressive weakness, weight loss, diarrhea, and jaundice, and had been undergoing outpatient workup for elevated liver enzymes for the last 2 years. She required admission to the intensive care unit for vasodilatory shock, requiring vasopressor and chronotropic support. Imaging showed an underlying multiorgan process involving the gastrointestinal tract, liver, spleen, and central nervous system. A repeat liver biopsy after a prior inconclusive one revealed the diagnosis of multisystem LCH presenting as secondary sclerosing cholangitis.
CONCLUSION
The uniqueness of this multisystem LCH case lies not only in its rarity but also in the diagnostic journey that necessitated a repeat biopsy for a conclusive diagnosis. Early identification and targeted intervention can help in ensuring better patient outcomes, especially when the presentation can overlap with various other possible conditions.
PubMed: 38868155
DOI: 10.1159/000538794 -
Cureus May 2024Spinal cord compression is a neurosurgical emergency. Symptoms of this disorder are highlighted as back pain, ambulatory difficulties, and bladder/bowel incontinence....
Spinal cord compression is a neurosurgical emergency. Symptoms of this disorder are highlighted as back pain, ambulatory difficulties, and bladder/bowel incontinence. Diagnostic imaging is not indicated in many circumstances of nonspecific back pain; however, the addition of neurologic deficits in the setting of back pain justifies radiologic imaging. Various pathologies can cause constriction of the spinal cord due to the delicate nature of spinal cord anatomy. Etiologies may include trauma, neoplasms, and infections. In this report, we present an unusual case of a 31-year-old male who presented to the emergency department with a history of chronic back pain accompanied by neurological deficits, ataxia, and bladder dysfunction. Contrast-enhanced MRI imaging heightened the suspicion of a neoplastic etiology; however, neuropathology revealed a non-neoplastic nature with abnormal lymphohistiocytic infiltrate suspicious for Langerhans cell histiocytosis or infectious etiology. A second opinion was provided by Mayo Clinic Laboratories, resulting in the definitive conclusion that the mass was non-neoplastic and tested negative for SD1a and Langerhin, biomarkers used to diagnose Langerhans cell histiocytosis. This unusual non-neoplastic lesion exemplifies one of many diverse and multifaceted pathologies that can precipitate spinal cord compression. Additionally, these findings underscore the importance of considering both neoplastic and non-neoplastic causes in the differential diagnosis of spinal cord compression, thereby enhancing clinical vigilance and improving patient outcomes for underlying spinal conditions.
PubMed: 38864071
DOI: 10.7759/cureus.60141 -
F1000Research 2023Langerhans Cell Histiocytosis (LCH) is a typically benign disorder that affects infants predominately, with adult occurrence being uncommon. We discuss the case of a...
Langerhans Cell Histiocytosis (LCH) is a typically benign disorder that affects infants predominately, with adult occurrence being uncommon. We discuss the case of a 22-year-old guy who visited our clinic complaining of three months of acute nape pain and upper limb radiculopathy. Notably, the patient had no history of trauma, fall injuries, or tuberculosis. Radiological tests identified a single osteolytic lesion within the C3 vertebral body. The lesion was removed, an anterior C3 corpectomy and discectomy were performed, and the patient's spine was reconstructed with a titanium cage and plating. The patient's nape discomfort and radiculopathy vanished almost instantly after surgery. A definitive diagnosis of LCH was confirmed through histological examination. This case report illustrates the unusual and uncommon occurrence of LCH at the C3 vertebral body, for which fusion surgery was the only viable therapeutic option. The patient's recovery from radiating pain following the surgical procedure demonstrates the effectiveness of the intervention. LCH in the cervical spine is rather rare, but it is nevertheless important to be aware of the possibility of developing it.
Topics: Humans; Histiocytosis, Langerhans-Cell; Cervical Vertebrae; Male; Young Adult; Adult
PubMed: 38854701
DOI: 10.12688/f1000research.139360.1 -
Pediatric Blood & Cancer Jun 2024The clinical relevance of BRAF-V600E alleles in peripheral blood mononuclear cells (PBMCs) and the prognostic impact of the mutants in cell-free (cf) and PBMC DNAs of...
BACKGROUND
The clinical relevance of BRAF-V600E alleles in peripheral blood mononuclear cells (PBMCs) and the prognostic impact of the mutants in cell-free (cf) and PBMC DNAs of Langerhans cell histiocytosis (LCH) have not been fully clarified in pediatric LCH.
METHODS
We retrospectively determined the levels of BRAF-V600E mutation in paired plasma and PBMC samples at the time of diagnosis of LCH. Subsequently, we performed a separate or combined analysis of the clinical and prognostic impact of the mutants.
RESULTS
We assessed BRAF-V600E mutation in peripheral blood from 94 patients of childhood LCH. Our data showed that cfBRAF-V600E was related to young age, multiple-system (MS) disease, involvements of organs with high risk, increased risk of relapse, and worse progression-free survival (PFS) of patients. We also observed that the presence of BRAF-V600E in PBMCs at baseline was significantly associated with MS LCH with risk organ involvement, younger age, and disease progression or relapse. The coexisting of plasma/PBMC identified 36.2% of the patients with the worst outcome, and the hazard ratio was more significant than either of the two alone or neither, indicating that combined analysis of the mutation in plasma and PBMCs was more accurate to predict relapse than evaluation of either one.
CONCLUSIONS
Concurrent assessment of BRAF-V600E mutation in plasma and PBMCs significantly impacted the prognosis of children with LCH. Further prospective studies with larger cohorts need to validate the results of this study.
PubMed: 38845144
DOI: 10.1002/pbc.31099 -
EClinicalMedicine Jul 2024Erdheim-Chester disease (ECD) is a rare histiocytosis that may overlap with Langerhans Cell Histiocytosis (LCH). This "mixed" entity is poorly characterized. We here...
BACKGROUND
Erdheim-Chester disease (ECD) is a rare histiocytosis that may overlap with Langerhans Cell Histiocytosis (LCH). This "mixed" entity is poorly characterized. We here investigated the clinical phenotype, outcome, and prognostic factors of a large cohort of patients with mixed ECD-LCH.
METHODS
This retrospective study was performed at two referral centers in France and Italy (Pitié-Salpêtrière Hospital, Paris; Meyer Children's Hospital, Florence). We included children and adults with ECD diagnosed in 2000-2022 who had biopsy-proven LCH, available data on clinical presentation, treatment and outcome, and a minimum follow-up of one year. Outcomes included differences in clinical presentation and survival between mixed ECD-LCH and isolated ECD; we also investigated response to treatments and predictors of survival in the mixed cohort. Survival was analyzed using the Kaplan-Maier method and differences in survival with the long-rank test. Cox regression models were used to evaluate the potential impact of age and gender on survival and to identify predictors of non-response and survival.
FINDINGS
Out of a cohort of 502 ECD patients, 69 (14%) had mixed ECD-LCH. Compared to isolated ECD, mixed ECD-LCH occurred more frequently in females (51 26%, < 0.001) and in patients with multisystem disease (≥4 sites). Mixed ECD-LCH more frequently involved long bones (91 79%, = 0.014), central nervous system (51 34%, = 0.007), facial/orbit (52 38%, = 0.031), lungs (43 28%, = 0.009), hypothalamic/pituitary axis (51 26%, < 0.001), skin (61 29%, < 0.001), and lymph nodes (15 7%, = 0.028); the mutation was also more frequent in mixed ECD-LCH (81 59%, < 0.001). Targeted treatments (BRAF and/or MEK inhibitors) induced response more frequently than conventional therapies (interferon-α, chemotherapy), either as first-line (77 29%, < 0.001) or as any line (75 24%, < 0.001). After a median follow-up of 71 months, 24 patients (35%) died. Survival probability was comparable between ECD alone and mixed ECD-LCH (log-rank = 0.948). At multivariable analysis, age at diagnosis (HR 1.052, 95% CI 1.008-1.096), associated hematologic conditions (HR 3.030, 95% CI 1.040-8.827), and treatment failure (HR 9.736, 95% CI 2.919-32.481) were associated with an increased risk of death, while lytic bone lesions with a lower risk (HR 0.116, 95% CI 0.031-0.432).
INTERPRETATION
Mixed ECD-LCH is a multisystem disease driven by the mutation and targeted treatments are effective. Age at diagnosis, bone lesion patterns, associated hematologic conditions, and treatment failure are the main predictors of death in mixed ECD-LCH.
FUNDING
None.
PubMed: 38841707
DOI: 10.1016/j.eclinm.2024.102658