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, Non-Langerhans-Cell ; Xanthomatosis

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*

Juvenile xanthogranuloma (JXG) is a benign and self-limiting non-Langerhans-cell histiocytosis that generally occurs during infancy and childhood. It develops frequently in the head and neck but is very rare in the nasal cavity. To date, only five cases of JXG in the nasal cavity have been reported. Here, we report the second case of JXG in the nasal cavity in Korea. A 19-year-old male patient presented with a protruding 1.1 cm mass in the left nasal vestibule. Histologically, a dense dermal infiltrate of histiocytes with Touton giant cells was observed. Immunohistochemically, the histiocytes tested positive for CD68 and the S-100 protein but negative for CD1a. This shows that a S-100-positive histiocytic lesion dose not exclude a diagnosis of JXG.
Diagnosis ; Giant Cells ; Head ; Histiocytes ; Histiocytosis, Langerhans-Cell ; Histiocytosis, Non-Langerhans-Cell ; Humans ; Korea ; Male ; Nasal Cavity* ; Neck ; S100 Proteins ; Xanthogranuloma, Juvenile* ; Young Adult

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

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

Papular xanthoma is a newly classified type of normolipemic xanthoma that resembles juvenile xanthogranuloma and xanthoma disseminatum. Papular xanthoma is asymptomatic multiple yellowish papules with granulomatous lesion composed of foam cells and few giant cells, with scarce inflammatory cell infiltration. We report a case of papular xanthoma in a 3-year-old girl who showed typical clinical manifestation. She had multiple discrete, 0.2 to 0.5cm sized elevated dome-shaped yellowish papules on the trunk and face for 2years. Histopathologic findings showed granulomatous changes mainly composed of foam cells and few histiocytes, in the dermis.
Child, Preschool ; Dermis ; Female ; Foam Cells ; Giant Cells ; Histiocytes ; Histiocytosis, Non-Langerhans-Cell ; Humans ; Xanthogranuloma, Juvenile ; Xanthomatosis*

<b>OBJECTIVEb>To analyze the clinical characteristics of three Chinese cases of Niemann-Pick disease type C patients with neonatal cholestasis as initial presentation, and enhance awareness of Niemann-Pick disease type C among pediatricians.

<b>METHODb>Three sporadic cases with confirmed Niemann-Pick disease type C initially presented as neonatal cholestasis were retrospectively reviewed in this study. Their peripheral blood specimens were collected after obtaining informed consent. All exons and the intron-exon boundaries of NPC1 gene were examined by bi-directional sequencing.

<b>RESULTb>Three patients, 1 female and 2 males, aged from 2 months to 5 years and 10 months, all first complained of jaundice in the neonatal period. Laboratory tests showed total bilirubin and direct bilirubin significantly increased with predominant increase of direct bilirubin. Total bile acid, aspartate aminotransferase (AST), and alanine aminotransferase (ALT) were also increased, while high-density lipoprotein cholesterol decreased. All patients were also accompanied by hepatosplenomegaly, with two of them having increased bronchovascular markings in chest X-ray. Two heterozygous changes of NPC1 gene, c.2741G>T +c.3020C>G (p. C914F + p. P1007R), c.2177G>C + c.3734_ 3735delCT (p.R726T + p. P1245RfsX12), and c.2054T>C + c.2128C>T(p.I685T + p.Q710X), were identified in patient 1, 2 and 3, respectively.

<b>CONCLUSIONb>We reported three cases suffered from Niemann-Pick disease type C with initial presentation as neonatal cholestasis in the mainland of China. For newborns with prolonged jaundice in the neonatal period, as well as neonatal cholestasis, hepatosplenomegaly, Niemann-Pick type C should be included in consideration of differential diagnosis. Genetic testing can identify causative mutations for diagnosis.

Asian Continental Ancestry Group ; Bile Acids and Salts ; Bilirubin ; Child ; Child, Preschool ; China ; Cholestasis ; etiology ; Exons ; Female ; Humans ; Infant ; Infant, Newborn ; Infant, Newborn, Diseases ; Lipoproteins, HDL ; Male ; Mutation ; Niemann-Pick Disease, Type C ; complications ; diagnosis ; genetics ; pathology ; Niemann-Pick Diseases ; Retrospective Studies ; Splenomegaly

Xanthoma disseminatum (XD) is one of cutaneous nonhistiocytosis X, and characterized by multiple, widely distributed red, brown, yellowish papules and nodules that tend to coalesce. We present a case of XD with characteristic clinical findings and treated with the combination therapy of COz laser vaporization and high dose steroid.
Histiocytosis, Non-Langerhans-Cell* ; Laser Therapy ; Lasers, Gas* ; Volatilization* ; Xanthomatosis*