Histiocytosis is an uncommon disease characterized by excessive accumulation of histiocytes. Here, we report a rare case of non-Langerhans-cell histiocytosis in a 51-year-old woman who presented with severe symptoms of pericardial effusion. Radiologic investigation also detected multiple bone (lower limbs, vertebrae, ribs, and ilium) lesions. Resected pericardium showed abundant mono- or multi-nucleated non-foamy histiocytes (CD68⁺/CD163⁺/S-100⁺/CD1α⁻/langerin⁻) in a fibroinflammatory background. The histiocytes demonstrated emperipolesis of lymphocytes, a hallmark feature of Rosai-Dorfman disease (RDD). However, molecular analysis revealed a BRAF V600E mutation of the proliferating histiocytes, highlighting the neoplastic features frequently observed in another non-Langerhans-cell histiocytosis known as Erdheim-Chester Disease (ECD). We consider this case to be a unique presentation of ECD harboring some RDD-like cells with emperipolesis, but not a case of RDD with a BRAF mutation concerning its clinical manifestation (involvement of the heart and bones) and neoplastic features.
Emperipolesis* ; Erdheim-Chester Disease* ; Extremities ; Female ; Heart* ; Histiocytes ; Histiocytosis ; Histiocytosis, Non-Langerhans-Cell ; Histiocytosis, Sinus ; Humans ; Lymphocytes ; Middle Aged ; Pericardial Effusion ; Pericardium ; Ribs ; Spine

No abstract available.
Histiocytosis ; Histiocytosis, Non-Langerhans-Cell ; Stomach* ; Xanthomatosis*

Erdheim-Chester disease is a rare non-Langerhans-cell histiocytosis with bone and organ involvement. A 76-year-old man presented with low back pain and a history of visits for exertional dyspnea. We diagnosed him with anemia of chronic disease, cytopenia related to chronic illness, chronic renal failure due to hypertension, and hypothyroidism. However, we could not determine a definite cause or explanation for the cytopenia. Multiple osteosclerotic axial skeleton lesions and axillary lymph node enlargement were detected by computed tomography. Bone marrow biopsy revealed histiocytic infiltration, which was CD68-positive and CD1a-negative. This report describes an unusual presentation of Erdheim-Chester disease involving the bone marrow, axial skeleton, and lymph nodes.
Aged ; Anemia ; Biopsy ; Bone Marrow* ; Chronic Disease ; Dyspnea ; Erdheim-Chester Disease* ; Histiocytosis, Non-Langerhans-Cell ; Humans ; Hypertension ; Hypothyroidism ; Kidney Failure, Chronic ; Low Back Pain ; Lymph Nodes* ; Skeleton*

Multicentric reticulohistiocytosis (MRH) is a rare systemic disease, which commonly manifests as muco-cutaneous papulonodules and inflammatory erosive polyarthropathy. In this research, we report the clinical manifestations and management of a rare case of MRH with destructive arthropathy of bilateral hip joints and arthritis mutilans presenting with characteristic deformities. Disabling hip arthropathy that occurs secondary to MRH can be successfully managed with bilateral total hip arthroplasty (THA). Osteopenia and acetabular bone defects must be anticipated during THA. This case is reported due to its rare occurrence and because little literature has been published regarding THA in such patients.
*Arthroplasty, Replacement, Hip ; Fingers/pathology ; Hip/pathology/radiography/surgery ; *Histiocytosis, Non-Langerhans-Cell ; Humans ; Skin/pathology ; Toes/pathology

Reticulohistiocytoma is a rare, benign histiocytic proliferation of the skin or soft tissue. A 5-month-old healthy girl visited our clinic for an enlarging nodule on the center of her right palm. The clinical differential diagnosis included xanthogranuloma and primary cutaneous CD4 positive small/medium T-cell lymphoma. Histopathology of the nodule showed abundant eosinophilic and glassy cytoplasm. The nuclei were round to oval shaped, with focal irregular nuclear membrane, and mitotic figures were absent. Immunohistochemical study determined that the cells were positive for CD68 but negative for CD1a. She was finally diagnosed with reticulohistiocytoma (solitary epithelioid histiocytoma).
Cytoplasm ; Diagnosis, Differential ; Eosinophils ; Female ; Histiocytosis, Non-Langerhans-Cell ; Humans ; Infant ; Lymphoma, T-Cell ; Nuclear Envelope ; Skin

Adult ; Histiocytosis, Non-Langerhans-Cell ; Humans ; Male

No abstract available.
Histiocytosis, Non-Langerhans-Cell ; Xanthomatosis

Erdheim-Chester disease is a rare non-Langerhans-cell histiocytosis involving bones and multiple organs. Its clinical course can vary, from an asymptomatic state to a fatal disease, with renal involvement being a common cause of death. A 41-year-old man presented with a 10-month history of bilateral lower limb pain. Left perirenal soft-tissue infiltration had been found incidentally two years earlier. No progression of the lesion or deterioration of renal function was observed for a period of two years. At admission, plain radiography and magnetic resonance imaging of the patient's lower limbs showed patchy osteosclerosis. Biopsy of the tibia revealed histiocytic infiltration, which was found to be positive for CD68 and negative for CD1a. This report describes an unusual case of Erdheim-Chester disease involving a stationary course of disease with no specific treatment for a long period of time.
Adult ; Asymptomatic Diseases ; Biopsy ; Cause of Death ; Erdheim-Chester Disease ; Histiocytosis, Non-Langerhans-Cell ; Humans ; Lower Extremity ; Magnetic Resonance Imaging ; Osteosclerosis ; Retroperitoneal Fibrosis ; Tibia

Xanthoma disseminatum (XD) is a rare, benign non-familial mucocutaneous disorder, which is a subset of non-Langerhans cell histiocytosis. It is characterized by mucocutaneous xanthomas in a disseminated form typically involving the eyelids, trunk, face, and proximal extremities and occurs in flexures and folds such as axillae and the groin. Mucosal involvement of the respiratory or gastrointestinal tracts may lead to hoarseness or intestinal obstruction from a mechanical mass effect. This paper outlines the case of a 47-year-old female with progressive yellow-to-brown confluent nodules and plaques of various sizes on her scalp, face, oral mucosa, neck, shoulder, axillary folds, and perianal area. Xanthomas accentuating over the eyelids and eyelashes led to partial obstruction of her visual field and interfered with blinking. Further, she suffered from xerophthalmia. The presentation of histopathological features including foamy histiocytes, inflammatory cells, and Touton giant cells in conjunction with her clinical findings indicated a diagnosis of XD. Evaluations for extracutaneous involvement including the central nervous system, respiratory tract, gastrointestinal tract, and bone resulted in nonspecific findings. Although she has been treated with surgical excisions, CO2 laser therapy, and oral prednisolone, new lesions are still emerging.
Axilla ; Blinking ; Central Nervous System ; Extremities ; Eyelashes ; Eyelids ; Female ; Gastrointestinal Tract ; Giant Cells ; Groin ; Histiocytes ; Histiocytosis ; Histiocytosis, Non-Langerhans-Cell ; Hoarseness ; Humans ; Intestinal Obstruction ; Lasers, Gas ; Middle Aged ; Mouth Mucosa ; Neck ; Prednisolone ; Respiratory System ; Scalp ; Shoulder ; Visual Fields ; Xanthomatosis ; Xerophthalmia

The aim of this study was to analyze characteristics of chronic active Epstein-Barr virus (CAEBV) infection associated hematological disorders in children. Clinical characteristics were summarized; the morphology of hematopoietic cells in bone marrow was observed by microscopy; the lymphocyte subpopulations were analyzed by flow cytometry; the immunophenotype of liver biopsies was assayed by immunohistochemistry; EBV-related antibodies were measured by ELISA; serum EBV-DNA loads were detected by real-time quantitative PCR; EBV-encoded small RNA 1-positive cells in peripheral blood mononuclear cells were identified by in situ hybridization. The results indicated that the clinical manifestations in patients included persistent or recurrent fever, hepatosplenomegaly, liver dysfunction, anemia, thrombocytopenia, systemic inflammatory reaction. Bone marrow presented as hypocellularity, dysmaturation, myelodysplasia and hemophagocytosis. CD8(+) cell high counts were demonstrated in all 4 patients, one of them developed into a T cell lymphoma. Serum EBV-DNA load was 3.26 x 10(3) copies/ml in one patient, EBER1(+) cells were detected at a frequency of 1.7% in PBMNCs from another patient; the titers of IgG to EBV-VCA were >or= 1:5120 in the rest 2 patients. All 4 patients described above were diagnosed as CAEBV infection. In conclusion, the immune-related cytopenia, macrophage activation syndrome and lymphoproliferative disorders are characteristics of CAEBV infection associated hematological disorders in these 4 children patients.
Child ; Child, Preschool ; Chronic Disease ; Epstein-Barr Virus Infections ; complications ; immunology ; virology ; Female ; Hematologic Diseases ; immunology ; virology ; Histiocytosis, Non-Langerhans-Cell ; immunology ; virology ; Humans ; Lymphoproliferative Disorders ; immunology ; virology ; Male