Project description:RationaleSpinal involvement in adult Langerhans cell histiocytosis (LCH) is rare, and epidural involvement is unusual. LCH is mostly indistinguishable from other spinal lesions such as infection, lymphoma, and metastasis. So, it could be easily misdiagnosed without suspicion.Patient concernsWe report a case of a 33-year-old man who complained of gait disturbance with weakness in both legs and severe back pain.DiagnosesA continuous enhancing epidural lesion with cord compression from the T7 to L1 level was detected in magnetic resonance imaging. Laboratory analysis indicated the possibility of spinal infectious disease. We assumed that the lesion could be tuberculous spondylitis.Interventions and outcomesThe patient underwent posterior laminectomy with marginal excision of the epidural mass to relieve cord compression. Pathological examination confirmed the diagnosis of LCH. The 12-month follow-up evaluation revealed that the patient was neurologically intact and had no gait disturbance.LessonsThis case report presents a patient with epidural LCH of the thoracic spinal cord, which can mimic spinal infections such as tuberculous spondylitis with abscess formation. Therefore, LCH could be considered as a possible diagnosis when a patient presents with features of infectious spondylitis with vertebral involvement.
Project description:BackgroundLangerhans cell tumors are rare clonal disorders characterized by neoplastic proliferation of dendritic cells that can be further classified into the subtypes Langerhans cell histiocytosis and Langerhans cell sarcoma, which are rare neoplasms exhibiting aggressive features and a poor prognosis. In addition to illustrating the refractoriness and poor outcomes of multisystem Langerhans cell histiocytosis in adults, specific events in this case highlight important characteristics of disease biology that warrant detailed discussion and exposition to a wider audience.Case presentationWe describe the case of a 42-year-old Caucasian man with Langerhans cell histiocytosis diagnosed from a lesion on the left arm that presented with constitutional symptoms, early satiety, and weight loss. Esophagogastroduodenoscopy showed extensive esophageal and duodenal involvement by Langerhans cell histiocytosis with features of Langerhans cell sarcoma. He was initially treated for Langerhans cell histiocytosis with low doses of cytarabine until he eventually presented clear transformation to acute monoblastic leukemia with complex karyotype that could not be properly controlled, leading eventually to death.ConclusionsLangerhans cell histiocytosis remains an exceedingly rare entity in adults, frequently presenting as multisystem disease with risk organ involvement. Langerhans cell sarcoma represents an aggressive subtype with extremely poor prognosis for which intensive acute myeloid leukemia induction should be strongly considered.
Project description:Langerhans cell histiocytosis (LCH) is a rare neoplastic disease characterized by infiltration of histiocytes and dendritic cells into body organs. While treatment is better established in pediatrics, there is still no consensus on therapy in the adult population. Imatinib has shown promising results in some case reports and a small clinical trial. We present here a fifty-nine-year-old patient with LCH in the lung, liver, and bone who responded well to an imatinib dose of 100 mg daily. Her symptoms improved within 3 months of treatment, and subsequent positron emission tomography-computed tomography (PET/CT) showed resolution of 18F-fluorodeoxyglucose (FDG)-avid lesions.
Project description:IntroductionLangerhans' Cell Histiocytosis is a rare disease of unknown etiology, the pathogenesis of which involves both reactive and neoplastic processes. Despite potential resolution with conservative management, a rare recurrence in a distant site after 3 years from presentation in this case highlights the variability in the course of the disease and the need for larger studies to enable recognition and evidence-based management.Case presentationWe present an unusual case below of a 25-year-old gentleman who presented with sternal pain and tenderness. Imaging showed a lytic lesion in the sternum which resolved spontaneously with oral analgesia. He presented 3 years later with back pain and a similar lytic lesion in the iliac bone was found and diagnosed as recurrent Langerhans Cell Histiocytosis with a biopsy.Clinical discussionThere is a diverse array of documented presentations of Langerhans Cell Histiocytosis involving single or multiple systems, while its progression and outcomes are equally unpredictable from the current literature. In order to facilitate wider recognition, Langerhans Cell Histiocytosis should be considered in the differential diagnosis of recurrent lytic bone lesions.ConclusionAlthough this is a rare disease, there is currently an unmet need for understanding the determinants of recurrence and response to treatment.
Project description:BackgroundPulmonary involvement of Non-Langerhans Cell Histiocytosis (PNLCH) is a rare cause of interstitial pulmonary disease in people and are classified as either Erdheim-Chester disease (ECD) or Rosai-Dorfman disease (RDD). In veterinary medicine, feline pulmonary Langerhans cell histiocytosis (PLCH) has been identified as an infiltrative histiocytic disorder with an insidious onset of progressive respiratory distress and is non-responsiveness to empiric therapies. Unfortunately, subsequent death either from respiratory failure or humane euthanasia are the reported outcomes in all reported cases. To date, a similar primarily pulmonary histiocytic disease has not been described in dogs. We present a case of an 8-year-old male intact Rottweiler with acute, progressive respiratory failure with a post-mortem diagnosis of PNLCH.Case summaryAn 8-year-old male intact Rottweiler presented following approximately 2 weeks of lethargy, anorexia, hypersalivation, and progressive respiratory distress characterized by intermittent wheezing, increasing inspiratory and expiratory effort, and tachypnea. Diagnostic imaging demonstrated a multifocal cranioventral alveolar pattern with nodules in the lung periphery. There were no significant changes appreciated in bloodwork. Despite empiric antimicrobials, oxygen support, and other supportive care measures, the patient continued to deteriorate and was subsequently euthanized. Post-mortem analysis was confirmatory for single-organ PNLCH.New or unique information providedThis case report represents the first reported case of canine PNLCH. Additionally, this report also provides further characterization of PNLCH in dogs with ante-mortem diagnostic imaging, cytologic evaluation of lung tissue, and post-mortem immunohistochemical characterization of canine PNLCH.
Project description:Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocyte disorder most commonly characterized by multifocal osteosclerotic lesions of the long bones demonstrating sheets of foamy histiocyte infiltrates on biopsy with or without histiocytic infiltration of extraskeletal tissues. ECD can be difficult to diagnose since it is a very rare disease that can affect many organ systems. Diagnosis is based on the pathologic evaluation of involved tissue interpreted within the clinical context. Patients who have the BRAF V600E mutation are treated first line with vemurafenib. For those without the mutation with symptomatic ECD, conventional or PEGylated interferon alpha is recommended. For patients who are either intolerant or nonresponsive to interferon alpha, systemic chemotherapy with or without corticosteroids can be used. We present a rare case of Erdheim-Chester disease with concurrent Langerhans cell histiocytosis which occurs in only one fifth of the cases and often presents as a diagnostic and therapeutic challenge.
Project description:BackgroundLangerhans cell histiocytosis (LCH) is a rare condition that has a variety of clinical manifestations. But LCH in children localized only in the hepatobiliary system is unusual.Case presentationHere we reported a rare case of a 2-year-old boy who was serendipitously found to have elevated liver enzymes while undergoing treatment of a perianal abscess. After a period of earlier conservative treatment in another hospital, the perianal abscess had resolved but the levels of liver enzymes were still rising slowly. The child was then referred to our institution for a definitive diagnosis. After laboratory tests, imaging and pathological examinations, a diagnosis of liver cirrhosis and sclerosing cholangitis was established, although the cause was unclear. Subsequently, living-donor liver transplantation was performed due to deterioration in liver function. Following successful liver transplantation, a diagnosis of LCH localized only within the hepatobiliary system was finally confirmed, based on additional pathological and imaging investigation. Additionally, the BRAF V600E mutation in this patient was also confirmed. The child has now recovered without evidence of LCH recurrence.ConclusionsLCH localized only within the hepatobiliary system is unusual. The presence of unexplainable sclerosing cholangitis and liver cirrhosis in any child should raise the suspicion of LCH.