Extranodal Rosai-Dorfman Disease Research Articles

Extranodal Rosai-Dorfman Disease of Breast Mimicker of Breast Malignancy

AbstractRosai-Dorfman-Destombes (RDD) disease is also known as sinus histiocytosis with massive lymphadenopathy. It is an uncommon heterogeneous disease of children and young adults. Most of the patients with RDD generally present with painless lymphadenopathy, while extranodal and multisystem manifestation of the disease is unusual. The diagnosis is based on the imaging with clinicopathological correlation. Flourine-18 fluorodeoxyglucose positron emission tomography/computed tomography is useful for the initial staging of the RDD lesions, which have similar appearance and avidity like intermediate and high-grade lymphomas. Here, we present the case of a 55-year-old female presented with left breast mass that turned out to be the extranodal Rosai-Dorfman disease.

Extranodal Rosai-Dorfman disease presenting as a suspicious breast lump: An infrequent but elusive differential diagnosis. A case report

Rosai-Dorfman disease represents a very rare idiopathic disorder mainly characterized by sinus histiocytosis and massive lymphadenopathy. In even rarer occasions (<43%), extranodal involvement has been reported, with one of the least common presentations being isolated breast affection (<1%). We report the case of a 64-year-old woman who debuted with a suspicious breast lump and underwent a prolonged study protocol before a proper histopathological diagnosis could be obtained. Surgical management was effective, and follow-up shows no signs of recurrence. In the context of ruling out breast malignancy, even rare alternatives should be considered when a diagnosis eludes us.

A Rare Case of Pseudo-Malignant Paranasal Extranodal Rosai-Dorfman Disease.

Rosai-Dorfman disease is a very rare disease characterized by histiocytic accumulation in the head and neck region and lymph node enlargement. We report a rare pseudo-malignant paranasal extranodal Rosai-Dorfman disease. A 69-year-old-man presented nasal bleeding and nasal obstruction. Paranasal mass was detected in the left nasal cavity and computed tomography (CT) findings are the sphenoid sinus, maxillary sinus, and ethmoid sinus were involved with inconstant bone thickening, however, no bone destruction was detected. Magnetic resonance imaging scans show iso-intensity signal in T1-weighed image and T2-weighed image. Positron emission tomography/CT fluorodeoxyglucose (FDG) uptake in posterior ethmoid sinus and sphenoid sinus, bilateral cervical lymph node, clavicle, and sternum. Based on the above results, we considered malignant lymphoma and performed a biopsy. After pathological examination, a diagnosis of Rosai-Dorfman disease was established.

Rare Case of Sino-Nasal Rosai Dorfman Disease

ABSTRACT :Introduction: Rosai-Dorfman disease (RDD) is a very rare nonneoplastic lymphoproliferative disease with unknown etiology and pathogenesis. It was originally described as sinus histiocytosis with massive lymphadenopathy(SHML). Approximately 43% of Rosai-Dorfman disease show extra nodal involvement wherein the possible sites are skin, CNS, ear, orbit and rarely nose and paranasal sinuses. Definitive diagnosis can be performed by histopathological examination, which shows emperipolesis. The sinus histiocytes are strongly reactive for S-100 protein and CD68, but negative for CD1a. Case Report: The current study presents the case of a 29 year old male patient who had complaints of nasal obstruction since 5 months. Diagnostic Nasal Endoscopy showed mass completely filling both nasal cavities. Histopathological examination concluded the diagnosis of Rosai-Dorfman Disease and Immunohistochemistry (IHC) stained positive for S-100 and CD68, while negative for CD1a, of the surgical specimen after surgical excision by Functional Endoscopic Sinus Surgery. Follow up was done after a week, monthly for 6 months and a year for recurrenceDiscussion: Extranodal RDD, although rarely seen, should be considered in nasal cavity. Even though there is no ideal protocol in the treatment, surgical excision should be considered if there is a functional disorder.

Extranodal Rosai-Dorfman disease involving pulmonary artery detected by 68Ga-FAPI PET/CT and fused 68Ga-FAPI PET/MRI.

Extranodal Rosai-Dorfman disease involving pulmonary artery detected by 68Ga-FAPI PET/CT and fused 68Ga-FAPI PET/MRI.

Rosai-Dorfman Disease

An 18-year-old man presented with a 3-month history of a rapidly growing, subconjunctival, salmon-colored lesion in the left medial palpebral aperture (Fig A). Excisional biopsy removed a well-defined, gelatinous mass (Fig B). Histopathology revealed lymphocytes, plasma cells and histiocytes with large, round nuclei, voluminous cytoplasm, and occasional emperipolesis (engulfment of lymphocytes) (Fig C, arrow). Histiocytes demonstrated positive S100 immunostaining (Fig D), confirming the diagnosis of extra-nodal Rosai-Dorfman disease.

Isolated extra nodal soft tissue Rosai-Dorfman disease, masquerading as soft tissue neoplasm: A rare entity

Rosai–Dorfman disease (RDD) is a rare, nonmalignant disorder of histiocyte proliferation which usually involves the cervical lymph nodes. Isolated extranodal RDD is rare which mimics other neoplastic processes thus causing diagnostic difficulties to the clinicians and radiologists. Here we report a case of 32 year old lady who presented with swelling in right thigh, clinically diagnosed as soft tissue neoplasm. Histopathology revealed pathognomonic findings of RDD showing sheets of large pale histiocytes showing emperipolesis along with dense lymphplasmacytic infiltrate. In extranodal RDD the typical histological findings of RDD are less common and there is pronounced fibrosis compared to nodal disease. The pathological diagnosis may be challenging in such cases. The surgical pathologist should have a high index of suspicion in such cases so that aggressive therapy can be avoided. The course of extranodal disease is generally less indolent and can be aggressive if vital organs are involved.

Clinicopathological and Gene Mutation Analysis of 27 Cases with Extranodal Rosai-Dorfman Disease.

ObjectiveTo investigate the clinicopathological features, and mutations of NRAS, KRAS, BRAF and MAP2K1 genes in extranodal Rosai–Dorfman disease (RDD).MethodsThe clinic opathological features of 27 patients with extranodal RDD were retrospectively analyzed, and the NRAS, KRAS, BRAF and MAP2K1 genes mutation were detected by Sanger sequencing.ResultsThe male to female ratio was 1.7:1. The average age was 46.9 years. There were skin lesions in 12 cases (44.4%) and head and neck lesions in 8 cases (29.6%). Microscopically, those patients with skin RDD had lesions characterized by clear and dark intervals and obvious emperipolesis, while in other parts, the background was more complex. About 21.1% (4/19) had mutations, including 3 mutations in NRAS 2 exon and 1 mutation in KRAS 2 exon. Two of the three NRAS mutations were located in the skin, accounting for 20% (2/10) of skin RDD.ConclusionExtranodal RDD was more common in males than in females, and might occur in all ages, with a greater incidence in skin, head, and neck. Besides the obvious microscopic characteristics in those with skin RDD, the background of other parts was complex and easily missed or misdiagnosed. Some RDD with gene mutations, mainly in NRAS 2 exon, especially in skin RDD, support partial RDD is a clonal disease.

Rosai-Dorfman disease originating from nasal septal mucosa and presenting with nasal dorsum collapse: A case report with literature review.

Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is an uncommon histiocytic disease with idiopathic etiology and unique pathology. Extra-nodal RDD that occurs in the nasal cavity is extremely unusual and the characteristic clinical features are unknown. Herein, we report a case of nasal septum RDD, with intermittent epistaxis from the left nasal cavity, which led to collapse of the nasal bridge. The patient underwent surgical biopsy, and a diagnosis of nasal septum RDD was established. No further treatment was performed. An enlarged mass was found in the second postoperative year which was treated by surgical excision in the third postoperative year. To improve the current diagnostic and therapeutic approach of extra-nodal RDD, we incorporate previous reports from the literature to discuss the pathological characteristics, pathogenesis, clinical manifestations, diagnosis, and therapy for this rare disease.

Spinal extranodal Rosai-Dorfman disease: A case report and literature review.

IntroductionSpinal extranodal Rosai-Dorfman disease (RDD) is extremely rare. In this paper, we reported successful management of spinal extranodal RDD and reviewed medical literature.Case presentationA 19-year-old male presented with progressive bilateral leg weakness and back pain for two months before admission. He denied weight loss, fever, night sweats, and lymph node enlargement. On examination, his muscle strength of both legs was grade I with hyperreflexia. Magnetic resonance imaging of the spine (MRI) showed a thoracic extradural mass at a level of T6-T9, which was a heterogeneous hyperintense on T2W, STIR, and isointense on T1W and enhanced contrast vividly. We resected the tumor totally and decompressed the spinal cord. Pathology revealed a histiocytic tumor. Immunohistochemical staining was S100 (+), CD68 (+), CD45 (+), and CD1a (−). Postoperatively, his muscle strength improved gradually to grade IV after four months. Postoperative MRI of the spine showed no residual tumor. No further adjuvant therapy was indicated.Clinical discussionSpinal extranodal RDD has no specific symptoms and pathognomonic imaging features. CT and MRI of the spine are still the essential tools for diagnosing RDD, but biopsy is often mandatory for definitive diagnosis. There have not been consensus guidelines for treating RDD of the spine because of its rarity. Surgical resection remained the mainstay of treatment (78.8%), with or without adjuvant therapies.ConclusionSurgery is the treatment of choice for most cases, while steroid therapy, radiotherapy, and chemotherapy should be adjuvant treatment and tailored individually.

Rosai-Dorfman disease: a rare presentation of extranodal involvement of isolated bone. Case report

Introduction: Rosai-Dorfman disease (RDD), also known as sinus histiocytosis, is a rare disorder characterized by histiocyte proliferation. Case presentation: A 33-year-old man consulted the emergency department of a tertiary care institution in Cartagena de Indias, Colombia, due to a 6-month history of progressive deformity in the frontal right side of the face, associated with pain of slow progression, without any other symptoms or dermatological involvement. There were no other major findings on physical examination and laboratory tests performed were negative. Imaging scans obtained showed extensive inflammatory involvement of the frontal bone, which led to suspect osteomyelitis as the first diagnostic possibility. A biopsy of the lesion was performed with negative cultures for bacteria, which allowed establishing a diagnosis of extranodal Rosai-Dorfman disease with isolated bone involvement. Treatment with systemic corticosteroids was indicated with poor response, so methotrexate was added, achieving an evident improvement after 2 months. Conclusions: Little is known about the manifestations of Rosai-Dorfman disease and its treatment in the adult population. The present case report contributes to expanding the literature on this topic, which can present with rare symptoms that may pose challenges for its diagnosis.

EXTRANODAL ROSAI-DORFMAN DISEASE AFFECTING THE MAXILLA AND MAXILLARY SINUS: A CASE REPORT AND LITERATURE REVIEW

<h3>Introduction</h3> Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a benign, self-limiting non-Langerhans cell histiocytosis of unknown etiology. It commonly affects younger individuals in their first 2 decades of life, showing no significant gender or racial predilection. RDD traditionally presents with bilateral, painless cervical lymphadenopathy with constitutional symptoms. Examples of extranodal RDD have been described in literature, whereby the nasal cavity and paranasal sinuses are common locations, being the site of involvement in 11% of cases. <h3>Case Report</h3> This report highlights a case of extranodal RDD presenting as a progressively enlarging left maxillary intrabony mass in a previously healthy 10-year-old female patient. Radiographic examination revealed a mixed radiolucent-radiopaque lesion with poorly defined margins affecting the left maxilla, extending superiorly to involve the ipsilateral maxillary sinus. Histologic evaluation showed a diffuse infiltrate consisting predominantly of plasma cells with interspersed large cells showing a clear cytoplasm and a vesicular nuclear chromatin pattern. No active emperipolesis was seen within these large cell clear cells. CD3 and CD20 immunohistochemical stains highlighted the presence of scattered reactive T- and B-cells respectively. CD138 confirmed the presence of numerous background plasma cells, which ultimately stained positive for IgG₄. The large clear cells stained positive for S100 and CD68 but were negative for CD1a. <h3>Conclusions</h3> Because of its rarity, wide phenotypic expression, and uncertain etiology, the treatment of RDD is not standardized. Extranodal RDD affecting the craniofacial complex tends to have an indolent behavior and is often self-limiting.

Rare case of extranodal Rosai-Dorfman disease presenting as a middle cranial fossa tumour

A 16-year-old previously healthy boy presented with a 7-year history of ‘black out’ spells. The patient reported that the episodes occurred one to two times in a month associated with...

Destombes–Rosai–Dorfman disease of the anterior abdominal wall: Extranodal sinus histiocytosis with massive lymphadenopathy

estombes–Rosai–Dorfman disease—often simply referred to, in the literature, as Rosai–Dorfman disease (RDD)—is a rare, nonmalignant disorder of histiocyte proliferation typically involving the cervical lymph nodes. A subset of patients with RDD, however, display extranodal manifestations highly variable in presentation, more challenging to diagnose, and less likely to spontaneously regress when compared to the nodal manifestations. This study describes the case of a young African male presenting himself with multiple nodules involving the anterior abdominal wall, who was found to have extranodal RDD. The current mode of diagnosis and the clinical management of RDD are reviewed.

Pure cutaneous rosai dorfman disease: An uncommon location for a rare histiocytic proliferative disorder

RosaiDorfman disease (RDD) is a rare, self-limiting disease of uncertain etiology involving lymph nodes as well as extranodal sites. Isolated or pure cutaneous RDD (PCRDD) without lymph node involvement is very unusual accounting for only 3% of all described cases of RDD. The clinical features of PCRDD are quite different from RDD according to the literature on extranodal RDD, thereby emphasizing that PCRDD is a distinct clinical entity. Histopathology remains the gold standard for the diagnosis of both systemic and PCRDD with the presence of characteristic emperipolesis observed in histiocytes while immunohistochemistry (IHC) (S100, CD 68 positive, and CD 1a-negative) serves as a useful adjunct. We hereby report a case of a 36-year-old female who presented with a tender, indurated plaque on the left forearm with a clinical differential diagnosis of borderline tuberculoid leprosy/sarcoidosis and lupus vulgaris. However, on histopathology, a diagnosis of RDD was performed and confirmed on IHC. This case highlights the need to create awareness among young pathologists and clinicians about PCRDD to prevent overzealous treatment.

Prevalence of temporomandibular disorders among medical students of Wardha district: A cross-sectional study

A 70-year-old male presented with orbital masses affecting the muscular cone. His past medical history was notable for diabetes mellitus, ischemic cardiopathy, sleep-apnea syndrome, and multiple serous effusions. The first biopsy specimen of affected orbital tissue revealed fibrohistiocytic infiltration resembling xanthogranuloma or Erdheim–Chester disease (ECD). An ulterior biopsy of affected orbital tissue showed lymphocyte emperipolesis with immunopositivity for CD68 and S100 but negative staining for CD1a marker, strongly suggesting Rosai–Dorfman disease (RDD). Afterward, pericardium and peritoneal effusions resulted in constrictive pericarditis and retroperitoneal fibrosis, respectively. The absence of distinctive clinical features made the diagnosis especially challenging. Attempts to control the disease using corticosteroids, radiation, orbital surgery, and interferon were unsuccessful. Aggressive treatments such as chemotherapy were not considered appropriate due to the general deterioration of our patient. Although the possibility of two concurrent diseases (e.g., systemic ECD and orbital RDD) cannot be discarded, we interpreted the orbital findings as likely due to RDD, and the entire condition of our patient as an extranodal RDD with atypical clinicopathological findings and outcome.

Extra-nodal Rosai-Dorfman Disease Confined to Breast

Abstract Introduction/Objective First described by Rosai and Dorfman in 1969, Rosai-Dorfman Disease (RDD) is an uncommon, idiopathic, reactive lymph node process with an unknown etiology. It may involve extra-nodal organs including the skin, bone, soft tissue, and eyes. However, breast involvement is rare and RDD confined to breast without nodal involvement is extremely uncommon. Methods Here we present a case of RDD confined to breast. The patient was a 51-year-old African American woman who was found to have an irregular, solid left breast mass on routine mammogram, which had speculated irregular margins and measured of 37.0 x 32.0 x 32.0 mm. She did not have any symptoms, nor any palpable lymph nodes. The clinician stated that the lesion was highly suspicious for a breast malignancy and requested a fine needle aspiration (FNA) of the mass, followed by total excision. Results An FNA was interpreted as atypical histiocytic cells in a mixed lymphoid background. Histopathologic examination revealed an ill-defined mass with sheets of histiocytes, plasma cells, and a mixed lymphocytic population, with occasional germinal centers. Some of the histiocytes were spindle shaped and associated with storiform collagen deposition. The histiocytes had single and multiple nuclei and exhibited occasional emperipolesis. Immunohistochemical staining with S100 diffusely highlighted the histiocytes, whereas CD1a was negative. CD3 and CD20 immunostains were positive for mixed-type lymphocytic infiltration. Cytokeratin staining was performed and reassuringly stained only the benign ductal cells. A diagnosis of RDD of the breast was made, based on these histopathologic findings. Conclusion We report an example of an extra-nodal RDD involving the mammary gland that was initially suspected to be breast carcinoma. RDD may still be a diagnostic challenge, especially in a patient with suspected carcinoma. It is the pathologist’s role to lead the clinician to the proper diagnosis and render a correct histopathologic diagnosis.

Clinical Manifestations and Radiological Characteristics on Rosai-Dorfman Disease: A Retrospective Observational Study

Background and Objective: Rosai-Dorfman disease (RDD) are usually misdiagnosed because of rarity and nonspecific clinical and radiological features. The aim of our study is to explore the clinical and imaging characteristics of RDD to improve diagnostic accuracy. Methods: Clinical and imaging data in 10 patients with RDD were retrospectively analyzed. 7 patients were underwent CT scanning and 3 patients were underwent MR examination. Results: 8 (8/10) patients presented with painless enlarged lymph nodes (LNs) or mass. 3 cases were involved with LNs, 5 cases were involved with extra-nodal tissues, and the remaining 2 cases were involved with LNs and extra-nodal tissue simultaneously. In enhanced CT images, enlarged LNs displayed mild or moderate enhancement, and 2 cases showed heterogeneous ring-enhancement. MR features of 3 patients with extra-nodal RDD, 2 cases showed a mass located in the subcutaneous and anterior abdominal wall respectively, and 1 case showed an intracranial mass. Besides, all lesions showed high signal foci on DWI images, and were characterized by marked heterogeneous enhancement with blurred edge. The dural/fascia tail sign and dilated blood vessels could be seen around all the lesions on enhanced MRI. Radiological features of 2 cases with LN and extranodal tissue involved, one case presented with the swelling and thickening of pharyngeal lymphoid ring and nasopharynx, meanwhile with enlarged LNs in bilateral submandibular area, neck and abdominal cavity, and also companied with osteolytic lesion in right proximal humerus. All these LNs displayed mild and moderate enhancement on CT images. Another case showed enlarged LNs in bilateral neck accompanied with soft tissue mass in the sinuses. Conclusions: RDD occurred commonly in young and middle-aged men and presented with painless enlarged LNs or mass.RDD had a huge diversity of imaging findings, which varied with different location. The radiological features, such as small patches of high signal foci in the masses on DWI images, heterogeneous enhancement and blood vessels around the masses, are helpful in diagnosis of extranodal RDD.

Rosai-Dorfman Disease: A Less Common Cause of Leptomeningeal and Nerve Root Enhancement

A 46-year-old male experienced progressive neurocognitive decline, weight loss, intermittent headaches, and weakness over 6 months. Magnetic resonance imaging of the brain revealed hydrocephalus and the spinal cord imaging showed diffuse leptomeningeal enhancement with prominent nerve root involvement. Intradural biopsy of lumbar arachnoid tissue found mixed inflammatory infiltrate consisting predominantly of histiocytes, S100 and CD68 positivity, and lymphocytophagocytosis (emperipolesis) consistent with extranodal Rosai-Dorfman disease. Rosai-Dorfman disease, a non-Langerhans cell histocytic disorder, can mimic the appearance of neurosarcoidosis and leptomeningeal carcinomatosis and should remain on the differential of a patient presenting with diffuse leptomeningeal enhancement, a common occurrence on a neurohospitalist service.

Clinical Manifestations and Radiological Characteristics on Rosai-Dorfman Disease: A Retrospective Observational Study

Background and Objective: Rosai-Dorfman disease (RDD) are usually misdiagnosed because of rarity and nonspecific clinical and radiological features. The aim of our study is to explore the clinical and imaging characteristics of RDD to improve diagnostic accuracy. Methods: Clinical and imaging data in 10 patients with RDD were retrospectively analyzed. 7 patients were underwent CT scanning and 3 patients were underwent MR examination. Results: 8 (8/10) patients presented with painless enlarged lymph nodes (LNs) or mass. 3 cases were involved with LNs, 5 cases were involved with extra-nodal tissues, and the remaining 2 cases were involved with LNs and extra-nodal tissue simultaneously. In enhanced CT images, enlarged LNs displayed mild or moderate enhancement, and 2 cases showed heterogeneous ring-enhancement. MR features of 3 patients with extra-nodal RDD, 2 cases showed a mass located in the subcutaneous and anterior abdominal wall respectively, and 1 case showed an intracranial mass. Besides, all lesions showed high signal foci on DWI images, and were characterized by marked heterogeneous enhancement with blurred edge. The dural/fascia tail sign and dilated blood vessels could be seen around all the lesions on enhanced MRI. Radiological features of 2 cases with LN and extranodal tissue involved, one case presented with the swelling and thickening of pharyngeal lymphoid ring and nasopharynx, meanwhile with enlarged LNs in bilateral submandibular area, neck and abdominal cavity, and also companied with osteolytic lesion in right proximal humerus. All these LNs displayed mild and moderate enhancement on CT images. Another case showed enlarged LNs in bilateral neck accompanied with soft tissue mass in the sinuses. Conclusions: RDD occurred commonly in young and middle-aged men and presented with painless enlarged LNs or mass.RDD had a huge diversity of imaging findings, which varied with different location. The radiological features, such as small patches of high signal foci in the masses on DWI images, heterogeneous enhancement and blood vessels around the masses, are helpful in diagnosis of extranodal RDD.