Rosai-Dorfman Disease Presenting Research Articles

Orbital masses as a rare presentation of Rosai-Dorfman disease: Clinicopathologic characterization of five cases

Rosai-Dorfman disease (RDD) is a rare, non-Langerhans cell histiocytosis. Most cases present with marked, non-tender lymphadenopathy due to the proliferation of atypical histiocytes. A minority of cases involves extranodal sites and can present as bone lesions, skin rashes, pulmonary nodules, and rarely orbital masses. Orbital involvement in RDD is rare and may infrequently present as an isolated tumor mass without lymphadenopathy. This study aims to better characterize this uncommon presentation of this rare disease. Five cases of orbital RDD were identified from the last 18 years and the clinical characteristics of each case were compared with histopathological findings. Three men and two women ages 12–36 presented with complaints of eye swelling and/or vision changes. One patient had a history of neurofibromatosis type I and inflammatory pseudotumors while the other four had no signs of systemic disease or other sites of extranodal involvement at the time of presentation. Masses ranged in size from 1.0 cm to 3.5 cm and primarily involved the superior orbit. Resected lesions all displayed characteristic findings of admixed atypical histiocytes, lymphocytes, and plasma cells with a fibrotic background. Emperipolesis was seen in all cases. Immunostaining for S100 and CD68 was diffusely positive in the histiocyte population. Clinical follow-up was obtained for 4 of 5 patients: all four were disease-free at 1 to 15 years after resection. RDD should be considered in the differential for patients with orbital masses, even in the absence of lymphadenopathy or signs of systemic disease.

Extranodal Rosai-Dorfman Disease Presenting as a Rapidly Enlarging Limbal Mass

Extranodal Rosai-Dorfman Disease Presenting as a Rapidly Enlarging Limbal Mass

Single-cell analysis of a progressive Rosai–Dorfman disease affecting the cerebral parenchyma: a case report

Neurologic Rosai–Dorfman disease (RDD) is a rare type of non-Langerhans cell histiocytosis that affects the central nervous system. Most neurologic RDDs grow like meningiomas, have clear boundaries, and can be completely resected. However, a few RDDs are invasive and aggressive, and no effective treatment options are available because the molecular mechanisms involved remain unknown. Here, we report a case of deadly and glucocorticoid-resistant neurologic RDD and explore its possible pathogenic mechanisms via single-cell RNA sequencing. First, we identified two distinct but evolutionarily related histiocyte subpopulations (the C1Q+ and SPP1+ histiocytes) that accumulated in the biopsy sample. The expression of genes in the KRAS signaling pathway was upregulated, indicating gain-of-function of KRAS mutations. The C1Q+ and SPP1+ histiocytes were highly differentiated and arrested in the G1 phase, excluding the idea that RDD is a lympho-histio-proliferative disorder. Second, although C1Q+ histiocytes were the primary RDD cell type, SPP1+ histiocytes highly expressed several severe inflammation-related and invasive factors, such as WNT5A, IL-6, and MMP12, suggesting that SPP1+ histiocytes plays a central role in driving the progression of this disease. Third, oligodendrocytes were found to be the prominent cell type that initiates RDD via MIF and may resist glucocorticoid treatment via the MDK and PTN signaling pathways. In summary, in this case, we report a rare presentation of neurologic RDD and provided new insight into the pathogenic mechanisms of progressive neurologic RDD. This study will also offer evidence for developing precision therapies targeting this complex disease.

An unusual presentation of unifocal Rosai-Dorfman disease and surgical treatment

Rosai-Dorfman disease (RDD) is a rare histiocytic disorder with an unclear aetiology, and commonly presents with painless, bilateral cervical lymphadenopathy. Extranodal presentation in the absence of nodal involvement has been reported to have a predilection for the head and neck with less than 20 cases involving the jaw bones and sinuses. We present an interesting case of unifocal RDD of the infratemporal space in the absence of nodal involvement in a 61-year-old female treated with surgical excision and adjuvant radiation therapy.

CASE-SB-04 - Cardiac Presentation of Rosai-dorfman Disease in a Pediatric Patient

CASE-SB-04 - Cardiac Presentation of Rosai-dorfman Disease in a Pediatric Patient

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.

Diagnostic Challenges of Rosai-Dorfman Disease Presenting as Pachymeningitis and Meningiomatosis: A Report of Two Unusual Cases Involving the Spinal Cord

Rosai-Dorfman disease (RDD) is an exceptionally rare medical condition, with spinal cord involvement even more infrequent. It is frequently misidentified as another malignancy or infectious disease. In this report, we present two cases of RDD with spinal cord involvement. Each patient presented with spinal intradural extramedullary masses within the thoracic and cervical levels, respectively. The differential diagnoses remained uncertain, with the potential for pachymeningitis and meningiomatosis due to the shared nature of nonspecific imaging findings and clinical symptoms in both conditions. Given the presence of neurologic symptoms and spinal cord compression, the individual lesions were surgically excised. Subsequent pathological analysis definitively confirmed the diagnosis of RDD. As an adjunctive therapeutic measure, both patients were orally administered prednisolone. Both patients exhibited favorable neurologic improvement. These cases highlight the diagnostic challenges of RDD when solely relying on imaging studies. Surgical intervention, in conjunction with a meticulous pathologic examination, is imperative for a precise diagnosis and guides appropriate treatment strategies. The multifaceted spatial manifestation of this disease further underscores the potential for multifocal occurrences within the central nervous system, providing an avenue for improved comprehension of the underlying mechanisms contributing to its dissemination.

An Unusual Clinical Presentation of Extranodal Rosai-Dorfman Disease – A Rare Case Report

Rosai-Dorfman disease is a rare, idiopathic, benign, histiocytic proliferation, usually seen in children and younger adults. Most common site of involvement is cervical lymph node. However, extra nodal manifestations are seen in significant proportion of cases.This case report discusses the unusual presentation of Rosai-Dorfman disease as mass lesion involving bilateral nasal cavities, paranasal sinuses and orbit along with multiple deposits in dura and cervical lymph node.

Rosai-Dorfman Disease with Nodal and Extranodal Involvements: A Case Report

Rosai-Dorfman disease (RDD) is a rare histiocytic disorder characterized by the proliferation of non-Langerhans cells within the lymph nodes, and occasionally in extranodal sites. We report a case of RDD presenting as a left jugal swelling in a 43-year-old male. Imaging studies revealed a poorly defined lesion infiltrating the subcutaneous and muscular planes, as well as the maxillary bone. Biopsy confirmed the diagnosis of RDD. Treatment included surgical excision, followed by low-dose radiation therapy. The patient remained asymptomatic during a one-year follow-up.

Rosai-Dorfman Disease Presenting as Massive Mediastinal Lymphadenopathy in an Elderly Man.

We present a patient case of a 73-year-old man with new-onset substernal chest pain and B symptoms, found on computed tomography imaging to have massive mediastinal lymphadenopathy of more than 6 cm. Positron emission tomography imaging revealed fluorodeoxyglucose-avid nodes further extending to the axillary, abdominal, and inguinal regions. After a broad patient work-up for infectious, malignant, and rheumatic causes, he was ultimately diagnosed with Rosai-Dorfman disease, a rare histiocytic neoplasm, by excisional lymph node biopsy.

Limited sinonasal Rosai-Dorfman disease presenting as chronic sinusitis.

AimsThe sinonasal tract is a common extranodal site for Rosai–Dorfman disease (RDD). Recently, histiocytes with features of RDD were identified in the clinical setting of chronic sinusitis. This study evaluates whether this phenomenon should be considered part of the RDD spectrum or classified separately as RDD‐like histiocytes.Methods and resultsWe prospectively collected 13 cases showing histological features of RDD in chronic sinusitis patients and identified 14 with similar findings (3.5%) via retrospective review of 403 sinus contents over 2 years. All 27 cases displayed nodular aggregates of eosinophilic histiocytes with intermixed lymphoplasmacytic inflammation, prominent eosinophils and emperipolesis. The histiocytes were positive for S100 protein and cyclin D1 and negative for CD1a and CD207. All patients presented with severe chronic sinusitis without tumour formation or systemic symptoms. Twelve patients with follow‐up (55%) required repeat sinus surgery compared with just 43 other sinusitis patients evaluated (11%); features of RDD were present in their additional specimens. Two cases that underwent targeted next‐generation sequencing (20%) had oncogenic mutations in NF1 and KEAP1.ConclusionsOverall, these findings confirm diagnostic histological and immunohistochemical features of RDD in a subset of chronic sinusitis specimens. While patients uniformly lack systemic involvement or tumefactive growth, they have a high risk of recurrent sinus disease. Although the relatively subtle nature of the findings raises consideration of separate classification, the presence of occasional oncogenic mutations and evidence of consistent MAPK/ERK pathway activation via cyclin D1 positivity suggests that this phenomenon represents a unique limited manifestation of RDD.

Isolated intracranial Rosai–Dorfman disease presenting as compressive optic neuropathy

A 56-year-old female presented with bilateral progressive painless loss of vision. Examination showed a relative afferent pupillary defect in the left eye with temporal disc pallor and visual field loss. MRI (magnetic resonance imaging) brain revealed a suprasellar mass for which mass excision via frontotemporal craniotomy was done. Histopathology examination of the mass revealed foamy histiocytes with emperipolesis, S-100 marker was positive. Thus, a diagnosis of Rosai–Dorfman disease (RDD) was made. Our case describes a rarely found isolated intracranial RDD presenting as compressive optic neuropathy and vision loss in an elderly female.

Cutaneous Rosai-Dorfman disease: A case report

Pure cutaneous Rosai-Dorfman is distinguished from classic Rosai-Dorfman disease by isolated skin involvement without lymphadenopathy or systemic symptoms. Herein, we report a case of a 30 year-old-man with 16 months history of a slowly enlarging, asymptomatic, purple plaque on her left cheek following cutaneous leishmaniasis successfully treated. The histopathological examination showed dense infiltration of inflammatory cells involving the entire dermis, consisting of large macrophages with emperipolesis, S100 and CD68 positive, lymphocytes and plasma cells. The patient was treated with intralesional triamcinolone with a significant improvement. The present article aimed to emphasise the clinical, histological differential diagnosis and to share the tumoral presentation of cutaneous Rosai-Dorfman disease.

Cutaneous Rosai-Dorfman Disease: A Treatment Challenge.

Rosai-Dorfman disease (RDD) is a benign histiocytosis that rarely manifests as a purely cutaneous form. Its differential diagnosis and treatment can pose a challenge to both clinicians and pathomorphologists. We present the case of a 69-year-old woman with cutaneous RDD presenting as multiple nodules on the right thigh who was treated with low-dose methotrexate weekly for > 1 year with a partial response.

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.

Cerebral Infiltrative Lesion and Chronic Clinical Course of the Rosai-Dorfman Disease: Case Report

Rosai-Dorfman disease (RDD) is a rare disorder of an unknown etiology, characterized by a benign histiocytic proliferation in the lymph nodes, as well as the extranodal sites. Painless bilateral lymphadenopathy is the classic presentation of RDD in the majorityof patients. The exteranodal disease involves the skin, soft tissues, bones, the genitourinary system, the lower respiratory tract, and the central nervous system. A seven-year-old boy was referred to our hospital with left parietal swelling, headache, fever, imbalance, weight loss, and speech and walking impairments. In early examinations, he showed a hyposignal infiltrative lesion in the lateral ventricle and the choroid plexus, expanding to the subcortical white matter of the bilateral temporooccipital areas. After surgery and sampling, he was diagnosed with cerebral RDD. According to his history, he had bilateral cervical lymphadenopathy at the age of two years, femoral soft tissueinvolvement at the age of three, and a skin disorder that improved with local treatments at the age of five. However, at the time of referral to the hospital, there were no other symptoms in other areas, except for brain symptoms. In the differential diagnosis of brain lesions with specific borders in high-contrast radiological views, the probability of RDD should be considered, similar to meningioma. The presence of painless and extensive bilateral cervical lymphadenopathy can improve the diagnosis of this disease. Isolated brain involvement in RDD is very rare, and it can be seen in less than 5% of cases. Nevertheless, by early diagnosis and intervention, the risk of complications is reduced, and the prognosis is improved.

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...

An unusual presentation of cutaneous Rosai Dorfman Disease in a child

Introduction: Rosai-dorfman disease (RDD) is a self-limiting, non-Langerhans cell histiocytosis of unknown etiology. It was originally thought to involve only the lymph nodes, however recent literature suggests extranodal involvement as wel. Case Report: Herein we report a case of cutaneous RDD in a six year-old girl, presenting with multiple subcutaneous nodules. Discussion: Cutaneous RDD is an extremely rare entity and unlike classic RDD, it has a predilection for the age group above 40 years and is more common in females. It is extremely rare in children.

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Rosai-Dorfman Disease Presenting as a Pulmonary Artery Mass on FDG PET/CT

Rosai-Dorfman disease (RDD) is an uncommon histiocytic disorder typically involving the lymph nodes and occasionally manifests as extranodal disease. Extranodal RDD involving pulmonary artery without lymphadenopathy or other extranodal lesions is very rare. We present the case of a 48-year-old woman complaining of shortness of breath on exertion for 6 months. F-FDG PET/CT revealed a pulmonary artery mass with intense FDG avidity. No other abnormal FDG-avid lesion was observed. The pulmonary artery mass was then surgically removed, and the pathological and immunohistochemical results confirmed RDD.