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

Rosai-Dorfman disease is a rare histiocytic disorder, clinically characterized by massive, bilateral painless cervical lymphadenopathy with potential for extranodal manifestations. We report a 45-year-old male patient who presented with a slowly growing erythematous nodule of the left chin. The mass appeared non-vascular on computed tomography study, but ultrasonogram was suggestive of a vascular lesion. The lesion was excised with presumptive diagnosis of a hemangioma. However, histopathologic examination of the surgical biopsy revealed histiocytic infiltration with emperipolesis, which was pathognomic for Rosai-Dorfman disease. Additional imaging studies did not reveal lymph node enlargement or other extranodal manifestation. The patient was diagnosed with cutaneous form of the Rosai-Dorfman disease and was discharged home. He remains free of local recurrence at 8 months.
Biopsy ; Chin ; Diagnosis ; Emperipolesis ; Hemangioma ; Histiocytosis, Sinus* ; Humans ; Lymph Nodes ; Lymphatic Diseases ; Male ; Middle Aged ; Recurrence ; Ultrasonography

Rosai-Dorfman disease is a rare, idiopathic, benign, and self-limiting histiocytic proliferative disorder. A 26-year-old man presented with a single massive cutaneous nodule (reaching 30 cm in diameter) on the left shoulder and back for 15 months. The routine hematological and biochemical tests were normal. Magnetic resonance scanning showed the lesion involved the skin, subcutaneous tissue, and subjacent muscle group, accompanied by obvious lymph node enlargement in the left part of the neck, supraclavicular fossa, and axillary fossa. The histopathology of the left cervical lymph node revealed diffuse effacement of the normal nodal architecture, with patchy chronic inflammatory cell infiltrates comprising lymphocytes and sheets of histiocytes. Some histiocytes contained lymphocytes within their pale cytoplasm. Many multinucleated giant cells were found; however, caseating granulomas were not seen. The skin and muscle biopsy specimen obtained from the back revealed infiltrating lymphocytes and histiocytes diffusely distributed in the dermis, subcutaneous tissue, and crevices of the muscle fibers. The phenomenon of emperipolesis and the presence of multinucleated giant cells were also seen. Immunohistochemical staining revealed that the histiocytes were positive for S-100 protein and CD68 but negative for CD1a. Immunophenotyping of the infiltrating lymphocytes indicated positive reactions to CD3, CD45RO, CD5, CD7, CD4, CD8 (partly), CD79a, CD20 (partly), and Ki-67 (<1%). The final diagnosis was Rosai-Dorfman disease. Owing to the extensive and deep involvement of the subcutaneous tissue and muscles, the patient did not undergo surgery to excise the massive skin nodule. The lesion showed no obvious change at the 12-month follow-up.
Adult ; Biopsy ; Cytoplasm ; Dermis ; Diagnosis ; Emperipolesis ; Follow-Up Studies ; Giant Cells ; Granuloma ; Histiocytes ; Histiocytosis, Sinus* ; Humans ; Immunophenotyping ; Lymph Nodes ; Lymphocytes ; Muscles ; Neck ; S100 Proteins ; Shoulder* ; Skin ; Subcutaneous Tissue

Rosai-Dorfman disease (RDD) is a benign proliferative histiocytic disorder of unknown etiology, which typically manifests as lymphadenopathy and systemic symptoms. Lymph node involvement is typical, but soft tissue RDD without nodal or systemic involvement is extremely rare. We report on a case of soft tissue RDD in a 16-year-old girl with a palpable mass on her buttock. It was firm, mobile, and discrete without tenderness. Excisional biopsy was performed, then RDD was confirmed histologically. RDD is a non-neoplastic disease that should be considered in the differential diagnosis of other soft tissue tumors. While the optimal treatment for extranodal RDD remains controversial, surgical excision is typically curative.
Adolescent ; Biopsy ; Buttocks ; Diagnosis, Differential ; Emperipolesis ; Female ; Histiocytosis, Sinus* ; Humans ; Lymph Nodes ; Lymphatic Diseases

Sinus histiocytosis with massive lymphadenopathy known as Rosai-Dorfman disease is characterized by painless bilateral cervical lymphadenopathy. Extranodal manifestations are uncommon and spinal involvement is rare. A 15-year-old man presented with intermittent midthoracic back pain only. He had no specific findings on neurologic examinations, hematologic and biochemical laboratory tests. Radiological examination of thoracic spine revealed collapse of T6 vertebrae with thoracic kyphosis and osteolytic lesion of T12 vertebra body. He underwent a removal of bone tumor, anterior reconstruction with mesh and pedicle screw fixation via posterior approach for pathologic confirmation and stabilization. Histopathologic study of the lesion revealed focal infiltration of large histiocytes showing emperipolesis. Immunochemistry stain of histiocytes was positive for CD68 and S-100 but negative for CD1a. This report presents a rare case and literature review of extranodal Rosai-dorfman disease in thoracic spine.
Adolescent ; Back Pain ; Emperipolesis ; Fractures, Compression* ; Histiocytes ; Histiocytosis, Sinus* ; Humans ; Immunochemistry ; Kyphosis ; Lymphatic Diseases ; Neurologic Examination ; Spine*

OBJECTIVES: To present a case of Rosai-Dorfman disease in an individual with a 14-year history of recurrent nasal polyposis and discuss its clinical presentation, physical examination, radiologic findings, histopathologic characteristics and available treatment. METHODS: Design: Case Report Setting: Tertiary Government Hospital Patient: One RESULTS: A 26-year-old Filipino diagnosed and repeatedly treated medically and surgically for recurrent nasal polyposis underwent repeat endoscopic sinus surgery. A histopathologic impression of Rosai-Dorfman disease was confirmed by positive S-100 and CD1a negative immunochemistry in conjunction with the morphologic findings. CONCLUSION: Rosai-Dorfman disease is a rare entity which should be considered when dealing with recurrent nasal polyposis that is intractable to initial medical and surgical therapies. Histopathologic findings of emperipolesis and immunohistochemical S-100 stains play a key role in the diagnosis but there is yet no definite treatment for this disease.
Human ; Adult ; Histiocytosis, Sinus ; Emperipolesis

Rosai-Dorfman disease (RDD) or sinus histiocytosis with massive lymphadenopathy (SMHL) is a benign histiocytic proliferative disorder of unknown etiology. The disease is usually accompanied by massive bilateral lymphadenopathy, fever, elevated erythrocyte sedimentation rate, leukocytosis with neutrophilia, and polyclonal hypergammaglobulinemia. Histopathologic examinations showed characteristically large histiocytes exhibiting emperipolesis. On immunohistochemical stains, histiocytes are positive for CD68 and S-100 protein, but negative for CD1a. The lymph node involvement is typical, but it may also involve other systemic organs in one third of the cases such as skin, upper respiratory tract, bones and so on. Patients with purely cutaneous Rosai-Dorfman diseases are of older age at onset of the disease with a reversed male/female ratio, thus, cutaneous Rosai-Dorfman disease is recognized as a distinct entity from the Rosai-Dorfman disease. Herein, we present a 50-year-old man with erythematous papules and indurated plaques on both cheeks, diagnosed as cutaneous Rosai-Dorfman disease. The lesions were treated with isotretinoin 10 mg bid for 9 months with pulsed dye laser.
Blood Sedimentation ; Cheek ; Coloring Agents ; Emperipolesis ; Fever ; Histiocytes ; Histiocytosis, Sinus ; Humans ; Hypergammaglobulinemia ; Isotretinoin ; Lasers, Dye ; Leukocytosis ; Lymph Nodes ; Lymphatic Diseases ; Respiratory System ; S100 Proteins ; Skin

Rosai-Dorfman disease (RDD) can present in any anatomic site, but breast involvement is rarely reported. Recently, a relationship between RDD and IgG4-related sclerosing disease has been suggested. Here we report another case of RDD with overlapping features of IgG4-related sclerosing disease occurring in a right breast of a 62-year-old female. On microscopic examination, the mass demonstrated a characteristic zonal pattern of proliferation of large polygonal histiocytes and lymphoplasma cells with stromal fibrosis. Emperipolesis was observed in histiocytes with abundant cytoplasm, which showed immunoreactivity for S-100 protein and CD68; the diagnosis of RDD was made. Sheets of plasma cells in the fibrotic stroma demonstrated positive reactions for IgG and IgG4. The mean count of IgG4-positive plasma cells was 100.2/high power field, and the ratio of IgG4/IgG was 56.7%. Additional findings of stromal fibrosis and obliteration of preexisting breast lobules suggested overlapping features with IgG4-related sclerosing disease.
Breast ; Cytoplasm ; Emperipolesis ; Female ; Fibrosis ; Fluconazole ; Histiocytes ; Histiocytosis ; Histiocytosis, Sinus ; Humans ; Immunoglobulin G ; Middle Aged ; Plasma ; Plasma Cells ; S100 Proteins

Rosai-Dorfman disease or sinus histiocytosis with massive lymphadenopathy (SMHL) is a benign histiocytic proliferative disorder of unknown etiology. It is accompanied by fever, leukocytosis, elevated erythrocyte sedimentation rate and polyclonal hypergammaglobulinemia. Histopathologic examinations showed characteristic large histiocytes exhibiting emperipolesis. On immunohistochemical stains, histiocytes are positive for CD68 and S-100 protein, but negative for CD1a. The lymph node involvement is typical, but it may also involve other systemic organs in one third of cases such as skin, upper respiratory tract, bone and so on. Patients with purely cutaneous Rosai-Dorfman disease are of older age at onset of the disease with a reversed male/female ratio, so cutaneous Rosai-Dorfman disease is recognized as a distinct entity from Rosai-Dorfman disease. We present a 48-year-old woman with an asymptomatic erythematous indurated plaque with yellowish papules on her left cheek and erythematous papules on her left infraorbital area, diagnosed as cutaneous Rosai-Dorfman disease at first. But 3 months later, she developed a palpable lymph node on her left submandibular area. She responded to high-dose hydroxychloroquine treatment.
Blood Sedimentation ; Cheek ; Coloring Agents ; Emperipolesis ; Female ; Fever ; Histiocytes ; Histiocytosis, Sinus* ; Humans ; Hydroxychloroquine* ; Hypergammaglobulinemia ; Leukocytosis ; Lymph Nodes ; Middle Aged ; Respiratory System ; S100 Proteins ; Skin

Rosai-Dorfman disease (RDD) is an idiopathic histioproliferative disorder of the lymph nodes and extranodal sites. Central nervous system involvement is extremely rare. Intracranial RDD, especially the isolated form, resembles meninigioma both clinically and radiologically. Here, we report a case of isolated, intracranial, dura-based RDD. The patient presented with headache and dizziness with no evidence of lymphadenopathy. Histologically, the lesion consisted of large histiocytes with emperipolesis and lymphoplasma cell infiltrates with a fibrotic background. We discuss the differential diagnosis of this lesion. To our knowledge, this is the first reported Korean case of intracranial RDD.
Central Nervous System ; Diagnosis, Differential ; Dizziness ; Emperipolesis ; Headache ; Histiocytes ; Histiocytosis, Sinus* ; Humans ; Lymph Nodes ; Lymphatic Diseases ; Meninges