Extranodal Rosai-Dorfman Disease Research Articles

Analysis of the clinical characteristics and efficacy of 20 cases of extranodal Rosai-Dorfman disease in head and neck

Objective: To analyze the clinical characteristics and efficacy of extranodal Rosai-Dorfman disease in head and neck. Methods: Clinical and pathological features and follow-up of patients who were diagnosed as RDD at Beijing Tongren Hospital of Capital Medical University between May 2008 and November 2016 were analyzed retrospectively. Results: There were a total of 20 extranodal RDD patients in head and neck including 14 females and 6 males, aged from 27 to 86 years (mean 52.5 years). Nose (14 cases) and throat (5 cases) were most commonly involved organs and 5 patients had 2 or more organs involved. Diagnosis depends on biopsy. Histopathologically, the lesions of RDD were characterized by the presence of large histiocytes with emperipolesis. The large sinus histiocytes were positive for S-100 and CD68 protein staining. Diagnostic Errors in 13 patients and operations in all patients were happened. More than 1 operation was performed in 9 recurrence patients. Eight patients were treated by Glucocorticoids and immunosuppressive agents. All the patients were alive until Feb 2017. Conclusion: Extranodal RDD in head and neck is known as a rare benign idiopathic proliferative disease. Nose is the most common site involved, and recurrence easily. It is diagnosis depending on histopathological report. Operation is first choice in diagnosis and treatment now. Glucocorticoids and immunosuppressive agents are effective in recurrence patients.

Extranodal Rosai–Dorfman disease arising in the heart: clinical course and review of literature

Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a nonmalignant disease of unknown etiology. It may present as bilateral, massive, painless cervical lymphadenopathy; however, one third of the cases have extranodal involvement. Extranodal sites include soft tissue, skin, upper respiratory and gastrointestinal tracts, and central nervous system, with head and neck being the most common. Here we report a rare case of intracardiac RDD in a 46-year-old, African-American female who presented with worsening shortness of breath and fatigue for 7 weeks. Comprehensive physical examination was within normal limits; the patient had no lymphadenopathy. Echocardiogram revealed a large mass in the left atrium extending into the mitral valve. The mass was resected under the pretext of clinical diagnosis of myxoma, and the patient underwent a radical extended interatrial septectomy with bovine pericardial patch reconstruction. The 8-cm resected mass consisted of areas of fibrosis alternating with sheets of histiocytes enmeshed in a mixed inflammatory infiltrate. Histiocytes contained intact lymphocytes, plasma cells, neutrophils, and erythrocytes suggesting emperipolesis. The diagnosis of RDD was confirmed by immunohistochemistry. This case highlights the extranodal manifestation of RDD in the heart which could be easily mistaken for a myxoma on clinical and radiologic evaluation. RDD must be considered in the differential diagnosis of any patient who presents with a cardiac mass.

Extranodal Rosai-Dorfman disease involving paranasal sinuses, orbits and anterior cranial fossa

Rosai-Dorfman disease (RDD) is a rare, benign pseudolymphatous condition, predominantly involving lymph nodes. Although several cases of extra-nodal involvement have been reported previously, central nervous system involvement, particularly in the absence of nodal disease is extremely rare. Extranodal large RDD presenting as a single lesion involving sino-orbital and anterior cranial fossa has rarely been described previously. We report a case of incisional biopsy proved RDD in a young lady who presented with nasal obstruction and subsequent proptosis with visual diminution. Radiography of head and paranasal sinus demonstrated a strongly enhanced, diffuse polypoid lesion filling the bilateral sinonasal cavity and orbit with extension to the anterior cranial fossa by way of splaying the bony foramina. Pre-operative low dose steroid therapy had resulted in decreased size of the mass which facilitate gross-total surgical resection. RDD was confirmed by histopathology (emperipolesis) and immuno-histochemistry (S-100 positivity). The follow-up computed tomography 3 months later showed minimal tumor residue in left parasellar region with complete sinonasal decompression.

Spinal extradural Rosai Dorfman disease

Rosai Dorfman disease is a rare disorder of histiocytes, which present as massive cervical lymphadenopathy. Here we describe a case of extranodal Rosai Dorfman disease involving the spinal cord. The patient presented with subacute progressive spastic paraparesis and numbness of both lower limbs. MRI of the spine showed an extradural mass extending from C3 to L1 level causing compressive myelopathy. Biopsy of the lesion was done through a D1 D2 laminectomy and the histopathology was consistent with Rosai Dorfman disease. We treated our case with one month steroids which resulted in clinical improvement and radiological resolution of the lesion.

Clinicopathologic analysis of extranodal Rosai-Dorfman disease of breast: a report of 12 cases

To investigate the clinicopathologic features, diagnosis and differential diagnosis of extranodal Rosai-Dorfman disease(RDD)of the breast. Twelve cases of extranodal RDD of the breast were analyzed using hematoxylin-eosin stain and immunohistochemical staining.The morphological features and immunophenotype were observed by light microscopy, accompanied with a review of the literature. Twelve cases of extranodal RDD of the breast are presented. The patients were women and their ages ranged from 15 to 55 years (mean =37 years). Except one patient with involvement of the right breast and ipsilateral axillary lymph nodes, other eleven patients' disease confined to the breast. Seven cases located in the right breast, the other five cases in the left breast. Microscopically, it showed a typical morphology, characterized by diffuse infiltration of large histiocytes, lymphocytes and plasmocytes that formed irregular nodular structure with light and dark appearance under microscope. Spindling of histiocytosis often arranged in a vague storiform with prominent fibrosis, accumulation of foamy histiocytes and scattered atypical nuclei. The characteristic histocytes and emperipolesis could not be seen obviously in extranodal RDD of the breast.Immunohistochemical staining showed histocytes were strongly positive for S-100 protein, CD68 and CD163, while negative for CD1a. Extranodal RDD of the breast is very rare. Because of unconspicuous emperipolesis and lack of specificity in clinic and images, extranodal RDD of the breast is easy to be misdiagnosed as other histiocytosis. The microscopic differential diagnosis includes idiopathic granulomatous mastitis, infective granulomas, langerhans cell histiocytosis, IgG4 related sclerosing disease, Erdheim-Chester disease, benign fibrous histiocytoma, malignant fibrous histiocytoma and Hodgkin Lymphoma. Light and dark appearance under microscope is the important clue in diagnosis of extranodal RDD in breast. Immunohistochemistry is also helpful.

Extranodal Rosai-Dorfman Disease: Clinicopathologic Series of 10 Patients With Radiologic Correlation and Review of the Literature.

To describe the radiologic and clinicopathologic features of extranodal Rosai-Dorfman disease (RDD) in our patient population. Via a data mining engine, we evaluated 13 cases of extranodal RDD in 10 patients treated at our institution from 2000 to 2014. There was a marked female predominance (90%) in our series. The most common clinical presentation was a palpable, painless mass, which often simulated a neoplasm. Only two cases occurred in children. Multicentric and recurrent disease were uncommon. Histologically, all cases showed large histiocytes with emperipolesis in a mixed inflammatory background, with areas of dense, storiform collagen fibrosis. Positive S-100 and CD68 with negative CD1a in histiocytes are characteristic. Extranodal RDD is rare and its manifestations varied. It may constitute a clinical and pathologic diagnostic challenge. Clinical suspicion and recognition of its histologic features are necessary for correct diagnosis and avoiding unnecessary treatment. Resection is curative in most cases.

Rosai-Dorfman's disease presenting as vallecular mass: An anesthetic overview

Rosai-Dorfman's disease (RDD) is a rare multisystemic histiocytic disorder, commonly presenting as cervical lymphadenopathy in a young male. Its extranodal form is very unusual. We report a case of extranodal RDD presenting as a large vallecular mass. Management of an airway mass is always a challenge to the anesthesiologist. This problem is accentuated when the mass is due to RDD, as RDD can involve multiple system of the body such as central nervous system, upper respiratory tract, orbit and eyelid, gastrointestinal tract, and skin. Autoimmune phenomenon though rare is also an important concern. Individualized plan based upon thorough evaluation and anticipation is the key for better outcome.

Imaging Features of Isolated Extranodal Rosai-Dorfman Disease in Iliac Bone

Imaging Features of Isolated Extranodal Rosai-Dorfman Disease in Iliac Bone

Self‐Healing Extranodal Cutaneous Rosai‐Dorfman in a Child

Sinus histiocytosis with massive lymphadenopathy, or Rosai-Dorfman disease (RDD), is commonly characterized by painless cervical lymphadenopathy. Exclusively cutaneous Rosai-Dorfman disease is rare. In the absence of massive lymphadenopathy, the nonspecific skin lesions may complicate the diagnosis. To our knowledge, the case reported herein is the youngest case of extranodal cutaneous RDD.

Isolated Cardiac Involvement of Extranodal Rosai-Dorfman Disease: An Atypical Presentation

Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, an uncommon systemic histio-proliferative disease, characterized by the overproduction of histiocytes, which accumulate in lymph nodes throughout the body. The extranodal cardiac involvement of this disease was never reported so far. Clinical summary: 36 year old presented with history of class 2/4 dyspnoea of 2 year history with one episode of lymphocyte predominant pericardial effusion for which he had taken antitubercular therapy. Echocardiogram showed oval homogenous mass in the RVOT with severe PAH. CMR revealed infiltrating mass lesion in relation to the ventricular outflow tracts, the antero-superior walls of the left atrium and basal left ventricle, the anterior basal interventricular septum and the aorto-pulmonary window. Surgical excision of the tumour was done and histology showed of pin point hemorrhages showed spindle cells and fibrohistiocytic proliferation admixed with plasma cells lymphocytes & polymorphs. Histocytes were present in small clusters and singly with abundant pale cytoplasm and nuclei with vesicular chromatin. Phagocytosed neutrophils and lymphocytes were present in some of these cells (Emperipolesis). These were suggestive of lymphoproliferative disease consistent with Rosai-Dorfman Disease.

Disseminated histiocytoses biomarkers beyond BRAFV600E: frequent expression of PD-L1.

The histiocytoses are rare tumors characterized by the primary accumulation and tissue infiltration of histiocytes and dendritic cells. Identification of the activating BRAFV600E mutation in Erdheim-Chester disease (ECD) and Langerhans cell histiocytosis (LCH) cases provided the basis for the treatment with BRAF and/or MEK inhibitors, but additional treatment options are needed. Twenty-four cases of neoplastic histiocytic diseases [11 extrapulmonary LCH, 4 ECD, 4 extranodal Rosai-Dorfman disease (RDD), 3 follicular dendritic cell sarcoma (FDCS), 1 histiocytic sarcoma (HS) and 1 blastic plasmacytoid dendritic cell neoplasm (BPDCN)] were analyzed using immunohistochemical and mutational analysis in search of biomarkers for targeted therapy. BRAF V600E mutations were detected in 4/11 LCH and 4/4 ECD cases. A pathogenic PTEN gene mutation and loss of PTEN protein expression were identified in the case of HS. Increased expression of PD-L1 (≥2+/≥5%) was seen in 3/4 ECD, 7/8 LCH, 3/3 FDCS and 1/1 HS, with overall 81% concordance between 2 antibodies used in the study (SP142 vs. MAB1561 clone). These results show for the first time significant expression of the PD-L1 immune checkpoint protein in these disorders, which may provide rationale for addition of immune check-point inhibitors in treatment of disseminated and/or refractory histiocytoses.

Rosai-Dorfman disease of soft 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.

Extranodal Rosai-Dorfman Disease Presenting as an Intranasal Mass

Objective. We report the case of a 40-year-old female with biopsy-proven cutaneous extranodal Rosai-Dorfman who presented with symptoms of nasal obstruction and sinusitis. Rosai-Dorfman disease, also known as sinus histiocystosis with massive lymphadenopathy (SHML), is a rare, idiopathic disorder characterized by a benign proliferation of histiocytes initially thought to be limited to cervical lymph nodes. However, between 30% and 50% of patients identified with SHML have extranodal manifestations. Study design. Case report and literature review. Results. The patient presented to the otolaryngology clinic with nasal obstruction. A CT scan demonstrated lesions of the left inferior turbinate and anterior nasal septum with bony erosion. The patient underwent a biopsy of the nasal mass. The specimen was evaluated with flow cytometry, microscopy, and stained for immunohistochemical markers which confirmed a diagnosis of Rosai-Dorfman. Conclusion. Rarely, Rosai-Dorfman disease may manifest in the nasal cavity with symptoms mimicking that of sinusitis. Otolaryngologists should be familiar with the pathophysiology of the disease, the variability of extranodal involvement, radiologic findings, and the immunohistochemical analysis of Rosai-Dorfman to aid in diagnosis. This report emphasizes the radiological, pathological, and clinical appearance of the disease.

English

INTRODUCTION: Rosai-Dorfman disease (RDD) is a rare proliferative histiocytic disorder of unknown etiology. RDD typically presents with generalized lymphadenopathy and polymorphic histiocytic infiltration of the lymph node sinuses; however, occurrences of extranodal soft tissue RDD may rarely occur. We are presenting a case that presented as a subcutaneous swelling. CONCLUSION: RDD is a rare inflammatory lesion that should be considered in the differential diagnosis of a soft tissue tumor. Differentiation of extra nodal RDD from more common soft tissue tumors such as soft tissue sarcoma or inflammatory my fibroblastic tumor is difficult and usually requires definitive surgical excision with histopathological examination. The optimal treatment for extra nodal RDD is surgical excision and is usually curative.

Extranodal Rosai Dorfman Disease: A Rare Soft Tissue Neoplasm Presenting as a Ureteral Obstruction

Extranodal Rosai Dorfman Disease: A Rare Soft Tissue Neoplasm Presenting as a Ureteral Obstruction

Rosai-Dorfman Disease Presenting as a Large Rectal Polyp

Introduction: Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare disorder most commonly manifested in patients within the first 2 decades of life.1 Despite its initial description as a nodal disease, many extranodal manifestations of RDD exist. It has been reported that up to 40% of RDD cases present with extranodal findings that include the central nervous system, skin, lung, head and neck, and bone, while gastrointestinal manifestations of RDD are rare.2 We present a case of extranodal RDD found incidentally after removal of a large rectal polyp. Case Report: A 60-year-old woman with a past medical history of diabetes mellitus, hypertension, and prior colon polyps presented to the gastrointestinal clinic for 1 week of intermittent episodes of blood-streaked stool. Physical examination was unremarkable, and rectal examination demonstrated no evidence of gross blood or melena. Colonoscopy was notable for a 20-mm polyp in the rectum, which was removed with a hot snare. The remainder of her examination was unremarkable. Histology was notable for ulcerated colonic mucosa comprised of dense mucosal, submucosal acute, and chronic inflammatory infiltrate with numerous histiocytes containing lymphocytes. The histiocytes were S-100 positive by immunohistochemistry. This was consistent with sinus histiocytosis (Rosai-Dorfman disease). As part of her continued evaluation, a CT of her chest, abdomen, and pelvis was negative for lymphadenopathy. A repeat colonoscopy 3 months later was negative for residual disease. Discussion: Gastrointestinal manifestations of RDD are a rare entity, and to date, there are 19 reported cases varying in location from the liver, pancreas, small bowel, to colon3. The hallmark feature of RDD is proliferation of histiocytes, derived from activated macrophages that contain intact lymphocytes within their cytoplasm2. The most important staining characteristic is positivity for S100, but these histiocytes often express macrophage antigens such as CD68, HAM 56, CD14, CD64, CD15, and EBM11.2 RDD presenting as a colon polyp is particularly rare, with only 2 known cases.3-5 In one case, the polyp was small (5 mm), while size was not recorded in the other.4,5 In both cases, there was no evidence of lymphadenopathy or distant disease. In summary, RDD limited to the GI tract is rare. We highlight its presentation as a large rectal polyp, which adds to the small amount of observed cases.

Rectal extranodal Rosai–Dorfman disease diagnosed by EUS‐FNA: A case report and review of the literature

Rosai-Dorfman disease (RDD), also known as "sinus histiocytosis with massive lymphadenopathy," only rarely involves the gastrointestinal (GI) tract. Therefore, this unusual site of presentation can be challenging for the pathologist. We present a case of RDD manifesting as a rectal submucosal mass associated with rectal bleeding in a 54 year old woman. The diagnosis was made on cytologic preparations obtained through endoscopic ultrasound guided fine needle aspiration (EUS-FNA) and subsequently confirmed by biopsy. To our knowledge, this is the first time extranodal RDD of the GI tract has been diagnosed by EUS-FNA. A review of previously published cases of GI RDD is presented to increase awareness of this exceptional presentation.

Extranodal Rosai-Dorfman Disease Involving Maxilla

Sinus histiocytosis with massive lymphadenopathy, described in 1969 by Rosai and Dorfman, is a benign and self-limited disease, characterized by a painless cervical lymphadenopathy, usually bilateral, accompanied of fever, neutrophilic leukocytosis, and polyclonal hypergammaglobulinemia. It has a predilection for young adult men. We report an atypical case of Rosai-Dorfman disease with isolated involvement of the maxilla. The diagnosis was established by correlating detailed histopathological, immunohistochemical, and clinical data. Several lesions can be included in the differential diagnosis of Rosai-Dorfman disease, such as Langerhans cell histiocytosis, lymphoma, metastatic tumors, and various infections, including leprosy and histoplasmosis. Although the disease is rare, recognizing extranodal Rosai-Dorfman disease involving the jaws is essential to avoid misdiagnosis as a malignant neoplasm or infectious disease and to provide appropriate treatment.

Rosai dorfman syndrome with extranodal presentation

Rosai-Dorfman disease (RDD) also known as sinus histiocytosis with massive lymphadenopathy is a rare idiopathic and non-neoplastic disorder of histiocytes, resembling the sinus histiocytes of lymph nodes. The most common presentation of RDD is painless cervical lymphadenopathy in a young patient. The typical clinical features of this disease include bilateral painless lymphadenopathy, fever, and polyclonal hyperglobulinemia. However, in about 25% of cases there is no lymph node involvement and the disease presents as a mass in skin, soft-tissue, nasal cavity, eye, bone, or in other extranodal sites (extranodal type). The condition may present with extranodal involvement in 43% of cases, and cutaneous lesions are the most common form of extranodal disease. This can pose a diagnostic challenge if RDD is not considered in differential diagnoses. Isolated extranodal RDD is relatively uncommon. We report this rare case of extranodal RDD in a 32-year-old female who presented with erythematous tender subcutaneous plaques on lower extremities with left periorbital swelling. Histopathological examination demonstrated lymphophagocytosis (emperipolesis) consistent with a diagnosis of RDD.

Benign scalp lump as an unusual presentation of extranodal Rosai-Dorfman Disease

Background:Rosai–Dorfman disease (RDD) is a rare benign histioproliferative disease. It is typically characterized by benign histiocyte proliferation with lymphadenopathy, fever, and leukocytosis and was first described in 1969 by Rosai and Dorfman. Extranodal involvement has been reported in approximately up to 43% of the cases with isolated central nervous system (CNS) manifestations being even rarer.Case Description:We report our management of a 41-year-old female with extranodalpurely CNS RDD presenting as a benign scalp lump. Her lump progressed from an asymptomatic benign lesion to one causing localized cerebral edema. Treatment was surgical excision of both the cervical and CNS lesions achieving complete removal of the lesions and resolution of her symptoms.Conclusion:RDD is a rare condition and isolated CNS RDD is even less common. Benign scalp lumps have a myriad of differential diagnoses, but RDD should be a consideration in the presence of preexisting RDD lesions at other sites given its potential to progress and result in morbidity. It is imperative to be aware that symptoms may be especially deceiving as the absence of lymphadenopathy may point away from RDD as the diagnosis.