Rosai Dorfman's disease of the maxillary bone with soft tissue involvement of the cheek: Case Presentation and Literature Review / Enfermedad de Rosai Dorfman de maxilar con compromiso de partes blandas de mejilla: Presentación de caso y revisión de la literatura

The Rosai-Dorfman disease (RDD) is a bening entity, of unknown etiology, rare, characterized by the overproduction of histiocytes and their subsequent accumulation in the lymph nodes, which may also compromise other organs and systems. It predominantly affects young people. The histological study, which shows emperipolesis, is very indicative but not pathognomonic, but with the immunohistochemistry the diagnosis of the disease is reached, which does not have a well-protocolized treatment. Its evolution is highly variable, with spontaneous remission being a possibility, although in some cases the commitment is extensive, compromising important or vital anatomical structures that requiere vigorous treatment, which can be surgical, radiotherapy and even chemotherapy. We present a case of RDD that affected a 17-year-old girl with upper jaw and right maxillary sinus commitment, which began with loss of teeth, and subsequent appearance of a painless and deforming facial tumour that underwent surgical resection. In this case, the etiological diagnosis was not posible in the preoperative period despite multiple biopsies. An extensive review of the literature is carried out in order to a better understanding of this pathology.

La Enfermedad de Rosai-Dorfman (ERD) es una entidad benigna, de etiología desconocida, poco frecuente, caracterizada por la sobreproducción de histiocitos y su posterior acúmulo en los linfonodos, pudiendo comprometer también a otros órganos y sistemas. Afecta predominantemente a personas jóvenes. El estudio histológico, que muestra emperipolesis, es muy orientativa pero no patognomónica, aunque con la Inmunohistoquímica se llega al diagnóstico de la enfermedad que no tiene un tratamiento bien protocolizado. Su evolución es muy variable, siendo la remisión espontánea una posibilidad, no obstante, en algunos casos, el compromiso es extenso, comprometiendo estructuras anatómicas importantes o vitales que requieren de un tratamiento enérgico, pudiendo ser éste quirúrgico, radioterápico y aún quimioterápico. Se presenta un caso de ERD que afectó a una joven de 17 años, con compromiso de maxilar y seno maxilar derecho, que debutó con pérdida de piezas dentarias y posterior aparición de un tumor facial indoloro y deformante que fue sometido a resección quirúrgica. En este caso no fue posible el diagnóstico etiológico en el preoperatorio pese a múltiples biopsias. Se hace una extensa revisión de la literatura con el objeto de conocer mejor esta patología.

Erdheim-Chester Disease with Emperipolesis: A Unique Case Involving the Heart / Journal of the Korean Cancer Association, 대한암학회지

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.

Cutaneous Rosai-Dorfman Disease Confused with Vascular Mass

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.

Rosai-Dorfman disease of soft tissue / 영남의대학술지

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.

Rosai-Dorfman Disease with Massive Cutaneous Nodule on the Shoulder and Back

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.

Rosai-Dorfman Disease in Thoracic Spine: A Rare Case of Compression Fracture

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.

Rosai-Dorfman disease presenting as recurrent nasal polyposis

@#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.

A Case of Cutaneous Rosai-Dofman Disease Treated with Isotretinoin and Pulsed Dye Laser / 대한피부과학회지

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.

Rosai-Dorfman Disease in the Breast with Increased IgG4 Expressing Plasma Cells: A Case Report

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.

A Case of Rosai-Dorfman Disease Treated with Hydroxychloroquine / 대한피부과학회지

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.

Isolated Intracranial Rosai-Dorfman Disease: A Case Report

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.

Development and Migration of Megakaryocyte during Hepatic Hemopoiesis in Human Fetuses / 대한해부학회지

Liver tissuses obtained from 5 human fetuses between 11 weeks and 23 weeks of gestation during the high activity of hepatic hemopoiesis were observed with transmission electron microscope using continuous series of thin sections. The objective of present study was to evaluate ultrastructures of megakaryopoietic cells, the migration of extravascular megakaryocyte into the sinusoidal lumen and the relevence between a migrated megakaryocyte and a Kupffer cell. Immature megakaryocytes were usually observed between growing hepatic laminae and within hepatic sinusoids. A megakaryoblast contained numerous polyribosomes, rather large mitochondria, short tubular elements of rough endoplasmic reticulum and small granules. Moreover, demarcation tubules and a few small specific granules were observed in immature megakaryocytes. The nucleus was mononuclear but frequently indented. With maturation, the nuclei were multilobulated. In the cytoplasm, in contrast to the decrease in polyribosomes and rough endoplasmic reticulum, the numerous specific granules and well -developed demarcation membrane system were predominant. Thereafter cytoplasmic zonation was observed clearly in maturing and mature megakaryocytes. Some megakaryocytes passed through the sinusoidal lining epithelium and into the hepatic sinusoids. The cell to cell interaction was often found as adhesion between migrated megakaryocyte and Kupffer cell, and erythroblasts within megakaryocyte (emperipolesis). These results suggest that intravascular megakaryopoiesis in addition to extravascular megakaryopoiesis occurs to produce platelet during the human fetal liver.

Migration of Emperipoletic Erythroblasts Within Kupffer Cells in Human Hepatic Hemopoiesis: Electron Microscopic Study / 대한해부학회지

The presence of erythroblasts within Kupffer cell was studied for transmission electron microscopically with 5 human fetal livers from 11 to 23 weeks of gestation during the high activity of hepatic hemopoiesis. By using continuous series of thin sections electron microscopically, the objective of the present study was to evaluate the relevance between a migrated erythroblast and a Kupffer cell, and the migration of erythroblasts within Kupffer cells in the sinusoidal lumen. During the examined period the sinusoidal wall consisted of endothelial cells and Kupffer cells, being deficient in basement membrane. Erythropoietic cell-Kupffer cell interaction was often found as the emperipolesis and adhesion between the cells in human fetal liver under electron microscopy. The cytoplasm of the emperipoletic Kupffer cell contained several mitochondria, rough endoplasmic reticuli, clear vesicles, electron dense bodies, cellular debris with shrunken chromatin of enucleated nuclei, intact enucleated nuclei, and erythroblast bearing vacuoles as intact erythroblasts. Intracellular erythroblasts in the Kupffer cell remain unaltered with their normal structure and showed mitosis, enucleation and migration of erythroblast into the sinusoidal lumen. And a clear zone of a vacuole was readily seen around the intracellular erythroblast within Kupffer cell. On occasion, the hypertropic Kupffer cell with interacellular erythroblasts virtually occluded the sinusoidal lining cell. Processing of a migrating emperipoletic erythroblast within a Kupffer cell, the erythroblast migrated via migration pore through the luminal cell membrane of the Kupffer cell into the sinusoidal lumen. An invasion of a proerythroblast into Kupffer cell or a migration of the cell into the sinusoidal lumen had been found in human fetal liver from 11 to 13 weeks of gestation. The results demonstrate that migration of emperipoletic erythroblasts within Kupffer cells occurs in human hepatic hemopoiesis. We suggest that emperipolsis may be one of the mechanisms that support the maturation of erythroblasts in human fetal liver.

1 Case: Pulmonary Giant Cell Carcinoma / 대한흉부외과학회지

The pulmonary giant cell carcinoma is classified as a variant of a large cell carcinoma and is diagnosed by the minimum component of 10% huge, pleomorphic and multinucleated giant tumor cell and emperipolesis of the neutrophils into the tumor cells. This tumor is characterized by local recurrences and early metastasis with extremely short patient survival. However, there are some reports that state that the survival time was extended by the operative resection and postoperative adjuvant chemotherapy and radiotherapy. A 46-year old male was admitted with complaint of hemoptysis for 2 months. Through chest X-ray and chest CT, a 5cm sized mass was found in the apical segment of the right upper lobe. During the preoperative evaluation, stenotic lesion in the left anterior descending coronary artery was found and treated by percutaneous transarterial coronary angioplasty. Four weeks later, right upper lobectomy was performed and the mass was proven to be a giant cell carcinoma. The patient received adjuvant chemotherapy and radiotherapy.

Emperipolesis within Megakaryocyte in Hepatic Hemopoiesis / 대한해부학회지

This study is designed to detect the emperipolesis in megakaryocyte in fetal liver, which is an important organ of hemopoiesis, during rat development, and to compare the activity of erythropoiesis in fetal liver with that of emperipolesis in megakaryocyte. In order to find that which causes are more related to emperipolesis, we applied periodic acid Schiff reagent, which is special staining method for megakaryocyte and used electron microscope. The size and maturity of magakaryocyte gradually developed with age. The number of megakaryocyte increased in similar proportion to the activity of erythropoiesis. Emperipolesis occurred in more mature megakaryocyte (most stage III). The majority of cells enclosed within megakaryocyte, were the precursor of erythrocytes. Emperipolesis was observed for the first time at 14 day of gestation. The highest frequency of emperipolesis showed 20% of whole megakaryocyte at 16 day of gestation, when the activity of erythropoiesis was most vigorous. The frequency of emperipolesis began to decrease after then, but megakaryocyte was most numerous at 17 day of gestation during fetal and neonatal period. At 19 day of gestation, stage IV megakaryocytes, just before the stage producing platelet, began to appear. Megakaryocyte was not observed after postnatal 10 day. In conclusion, it was found that the emperipolesis in megakaryocyte occurred in the rat fetal liver and was extreme the emperipolesis most observed at the time of most vigorous erythropoiesis during the development of rat fetal liver. It is suggested that the frequency of emperipolesis within megakaryocyte is more closely related with the activity of erythropoiesis in fetal liver than the that of megakaryocytopoiesis, before bone marrow acts as an important organ of hematopoiesis. It is also suggested that the emperipolesis contributes to the production of platelet during gestation period and the maturation of erythrocyte.

Immunohistochemical and Transmission Electron Microscopic Studies of Erythroblastic Islands in Human Fetal Liver / 대한해부학회지

Macrophages in 14 human livers from 5 to 37 weeks of gestation were studied immunohistochemically and transmission electron microscopically with 3 human fetal livers during the high activity of hepatic hemopoiesis. Author had used a highly specific mAb, CD68 to examine the distribution of mature macrophages in human fetal livers, with special reference to their presence in the hemopoietic microenvironment. Kupffer cells and macrophages were first seen in human enbryos by 7 weeks of gestation in primitive hepatic sinusoids and hepatic laminae. Thereafter numbers of CD68 labelled cells increased concomitantly with the rapid expansion of hemopoietic activity. From 11 to 26 weeks of gestation, the human fetal livers showed the maintenance of high hemopoietic activity and erythroblastic islands with various shapes. Macrophages in human fetal livers formed part of the hemopoietic stroma and their extensively spread plasma cytoplasmic processes, could be seen making intimate contacts with clusters of developing erythroblastic cells. Partly macrophages in the erythroblastic islands contained several developing erythroblastic cells (emperipolesis). Studies using the electron microscope demonstrated intact membranes surrounding the developing erythroblastic cells and lining the macrophagic vesicles. The decline of hepatic hemopoiesis after 27 weeks of gestation coincided with the decline of the size of an erythroblastic island and the disappearence of macrophage in the erythroblastic islands. The above results suggest that macrophages in the hepatic hemopoiesis participate in non-phagocytic hemopoietic cell interactions, erythroblastic island and macrophagic emperipolesis, as well as in phagocytosis of erythroblastic nuclei and dying cells.