histiocytosis x and clinical cases

Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis disorder characterized by the proliferation of histiocytes within the lymph nodes. Extranodal involvement can occur; however, only 10% of extranodal RDD involve the skin. We present a unique case of a 66-year-old woman with cutaneous RDD followed by the development of multiple myeloma (MM). To our knowledge, this is only the second reported case where RDD preceded a diagnosis of MM, with the first documented instance occurring in 2018. The patient presented to the dermatology clinic with a 5-year history of painless, solitary lesion over the right cheek...

BACKGROUND: Sinus histiocytosis with massive lymphadenopathy, also known as Rosai-Dorfman disease, is a rare, self-limiting disease that predominantly affects children and young adults. Moreover, the disease is characterized by painless bilateral cervical lymphadenopathy in 95% of the patients. However, few reports are available on the Rosai-Dorfman disease of the thymus. CASE PRESENTATION: We report a rare case of thymic Rosai-Dorfman disease detected using computed tomography...

We describe the case of a young male, with no significant medical history, who presented to the Emergency Department (ED) with severe respiratory compromise. He suffered a respiratory arrest shortly after presentation. An initial chest x-ray performed post intubation revealed bilateral pneumothoraces with evidence of abnormal underlying lungs. Through a series of investigations, he was diagnosed with Pulmonary Langerhans Cell Histocystosis. In this article, we outline the initial presentation, subsequent acute management and the clinical course pertaining to this man's presentation...

Rosai Dorfman disease (RDD) is a non-Langerhans cell histiocytic neoplasm characterized by sinus histiocytosis with variable emperipolesis. There is a limited understanding of the factors that contribute to disease progression. Traditional management of RDD consists of local therapies (resection, radiation) for localized disease and myelosuppression for systemic disease; targeted medications have also recently been introduced into clinical practice as an additional therapeutic modality. The goals of this study are to compare the impact of targeted therapies to conventional management of RDD and identify trends in laboratory data that may provide insight into disease progression...

INTRODUCTION AND IMPORTANCE: Langerhans cell histiocytosis (LCH) is a proliferation of dendritic mononuclear cells with infiltration into organs locally or diffusely. Its aetiology is still unknown, and its clinical spectrum is quite wide. CASE PRESENTATION: A 2-year-old-male child presented to us with a solitary swelling in left mandibular region which was painless and increasing in size with time. It was diagnosed to be unifocal LCH of mandible on the basis of X-ray, ultrasonography of the involved mandible and fine needle aspiration cytology of the swelling and managed conservatively with oral steroids...

BACKGROUND: Langerhans cell histiocytosis (LCH) or histiocytosis X is considered as a rare disease that may have effect on multiple organs. The initial presentation of LCH is varied. The signs and symptoms of otologic histiocytosis can be the same as the acute or chronic infectious ear diseases. Definitive diagnosis of LCH is confirmed by biopsy and immunohistochemically staining of S-100 protein and CD1a antigen. Chemotherapy is the main mode of treatment. CASE PRESENTATION: In this report, we explained the clinical manifestation, diagnosis and treatment of a case of 15 month-old girl with diagnosed of LCH that initially presented with otitis media with effusion (OME)...

Langerhans cell histiocytosis (LCH), earlier recognised as histiocytosis X, is a rare haematological illness involving infants and young children. LCH is caused by unrestrained stimulation and proliferation of usual antigen presenting cells, Langerhans cells (LCs) and the disease demonstrates extensive clinical and radiographic features involving multiple sites. Since the incidence is relatively low limited data is available regarding the epidemiology of LCH, with approximation of 2-5 cases per million populations per year...

(1) Introduction: Erdheim-Chester disease (ECD) is a life-threatening condition and often a diagnostic challenge. It has recently been classified as a hematopoietic tumour, and the cases of ECD reported in the literature has dramatically increased during the last 15 years. (2) Methods: We describe the case of a 57-year-old male patient with severe gynecomastia, with a detailed description of his diagnostic iter and consequent surgical operation. We provide the first systematic review of the literature of breast involvement in ECD, following PRISMA guidelines, including 13 studies and 16 patients...

BACKGROUND: Anaplastic lymphoma kinase (ALK)-positive histiocytosis, a novel rare histiocytic proliferation, was first described in 2008; it occurs in early infancy with liver and hematopoietic involvement. The spectrum was subsequently broadened to include localized diseases in older children and young adults. However, its full clinicopathological features and molecular lineage have not been fully elucidated. RESULTS: Here, we report four cases of multisystem ALK-positive histiocytosis without hematopoietic involvement...

Langerhans cell histiocytosis (LCH) is an uncommon proliferative disease with an unknown cause. Its clinical manifestations vary and can involve a variety of organs. To diagnose LCH, radiographs, histopathological and immunohistochemical findings are essential. The gold standard for a definite diagnosis is positive CD1a/CD207 and S100 in the immunohistochemical results. Different treatment plans are available for patients struggling with LCH. To our knowledge, the LCH incidence rate is about 8.9 in one million children and 1-2 cases in one million adults...

Langerhans cell histiocytosis (LCH) is a rare disease that occurs mainly in children. It has several forms of clinical presentation. Early diagnosis is important for better results. A 17-year-old male patient presented with right sharp shoulder pain for 2 months. Magnetic resonance image (MRI) of the shoulder showed an expansile osseous lesion in the anterosuperior spine of the right scapula with significant edema that causes compression of the subscapular neurovascular bundle. A CT scan and X-rays were also performed...

INTRODUCTION: Langerhans cell histiocytosis (LCH) is a condition characterized by proliferation of Langerhans cells and wide-range pathologies, ranging from single granulomatous lesions to multi-organ involvement, associated with tissue destruction. LCH pathogenesis remains obscure although association with interleukin (IL)-17A has been reported. We report here a case that illustrates the potential pathogenic role of helper T17 (Th17) cells in LCH-related bone destruction. MATERIALS AND METHODS: The patient was a 66-year-old woman...

This is, to our knowledge, the first case report with in-depth analysis of bone marrow and bone lesions with diffusion-weighted imaging and dynamic contrast-enhanced MRI in Erdheim-Chester disease to date. We present a case of a 70-year-old woman who was referred for an X-ray of the pelvis, right femur and right knee after complaints of migratory arthralgia in hip and knee five months after an initial hip and knee trauma. Bone lesions on X-ray were identified. This case report highlights the strength and complementary use of modern multimodality multiparametric imaging techniques in the clinical radiological manifestations of Erdheim-Chester disease, in the differential diagnosis and in treatment response assessment, which is classically performed using 18 FDG PET-CT...

Somatic mutations have been increasingly identified as etiologic for many hematologic and autoinflammatory disorders. VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome and Erdheim-Chester disease (ECD), a type of histiocytosis, can be classified as inflammatory myeloid diseases, characterized by systemic inflammation and multi-organ disease with predisposition to myeloid malignancies. VEXAS is a novel disease caused by UBA1 mutations that was first discovered using a genotype-driven approach (genotype was used to identify patients with undiagnosed inflammatory diseases)...

INTRODUCTION AND IMPORTANCE: Langerhans cell histiocytosis (LCH) is a rare neoplastic hyperplasia with an unknown etiology. It is clinically rare for patients with solitary rib lesion and pathological fracture. In this article, we report a case of LCH in solitary involvement of rib and provide a review of the available literature. CASE PRESENTATION: A 24-year-old female patient complained of right chest and back pain for 10 days. CT showed a fracture in the right 6th rib...

BACKGROUND: ECD is a rare non-Langerhans cell histiocytosis with diverse and heterogeneous clinical manifestations, ranging from single-lesion forms to multi-system involvement, including slowly progressing unifocal forms to rapidly evolving life-threatening disease. CASE PRESENTATION: A female patient presented with a 2-month history of fever. Imaging revealed multiple thromboses, bone destruction, an abnormal pituitary stalk, and clinical manifestations of diabetes insipidus...

Langerhans cell histiocytosis (LCH), also known as histiocytosis X, is a rare systemic disorder arising from clonal proliferation of immature CD207-positive (langerin) myeloid dendritic cells (histiocytes) in the skin and visceral organs with a tendency to involve single or multiple organ systems with variable clinical course and prognosis. The incidence of LCH is very less in adult and occurs almost exclusively in children. Genital, perianal, and lung lesions are considered to be rare manifestations of adult LCH...

CLINICAL ISSUE: Diffuse parenchymal lung diseases include a heterogeneous group of diseases of the lung parenchyma, the alveolar spaces, the vessels and the airways, which can be triggered by various pathomechanisms, such as inflammation and fibrotic changes. Since the therapeutic approaches and prognoses differ significantly between the diseases, the correct diagnosis is of fundamental importance. In routine clinical practice, next to the patients' history, the clinical presentation, the laboratory findings and the bronchoscopy, imaging plays a central role in establishing a diagnosis...

Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis and oral mucosal involvement is exceedingly rare. Histiocytic disorders harbor activating mutations in MAPK pathway, including the report of BRAF V600E in JXG of extracutaneous site. However, no information is available for oral JXG. Herein, the clinicopathological and immunohistochemical features of five new oral JXG were evaluated in conjunction with literature review. Also, we assessed the BRAF V600E in oral samples...

Serratia species are gram-negative bacteria, which could be isolated from soil, water, plants, animals and air. They are responsible for a heterogeneous spectrum of diseases, affecting the central nervous system, the urinary tract, the respiratory tract and the bloodstream. Pulmonary involvement is rare and typically occurs in immunocompromised patients; radiological appearances include haemorrhagic bronchopneumonia, even with the development of pulmonary abscesses and cavitated parenchymal lesions, or diffuse alveolar damage...