Enfermedad de Rosai-Dorfman intracraneal: un infrecuente diagnóstico diferencial del meningioma. Reporte de un caso ilustrativo

La Enfermedad de Rosai-Dorfman es un trastorno infrecuente y de etiología desconocida. La presentación intracraneal es aún más rara y suele imitar la apariencia de un meningioma en las imágenes del encéfalo. Se presenta el caso de un paciente varón de 38 años que ingresa por una tumoración intracraneal, extra-axial y supratentorial asociada a déficit neurológico leve; con diagnóstico presuntivo de meningioma de la convexidad. Después de la intervención quirúrgica, el diagnóstico histológico definitivo fue de Enfermedad de Rosai-Dorfman intracraneal. Se debe considerar la Enfermedad de Rosai-Dorfman intracraneal dentro del diagnóstico diferencial de una lesión intracraneal extra-axial sugestiva de un meningioma debido a la similitud en las neuroimágenes y la presentación clínica entre ambas patologías.

Rosai-Dorfman disease is an infrequent condition with no known etiology. The intracranial presentation is even rarer, and it resembles the appearance of a meningioma in image studies. We present the case of a 38-year-old male patient who was admitted because of an extra-axial supratentorial cranial tumor, associated to mild neurological deficit. The presumptive diagnosis was convexity meningioma. After surgery, the definitive histologic diagnosis was intracranial Rosai-Dorfman disease. This condition should be considered in the differential diagnosis of an extra-axial intracranial lesion suggesting meningioma, because of similar neuroimaging results and the similar clinical picture.

Rosai-Dorfman disease of the oral cavity

ABSTRACT First described by J Rosai and R F Dorfman in 1969, Rosai-Dorfman disease (RDD) is a benign, self-limiting histiocytosis of unknown etiology. It is usually seen in the first two decades of life. The most frequent clinical presentation is painless, bilateral cervical lymphadenopathy accompanied by fever, weight loss, and an elevated ESR. However, RDD without nodal involvement is extremely rare, and the most common extranodal location is the head and neck region, mainly affecting the nasal cavity, pharynx, and paranasal sinuses. Oral location of RDD is occasional; according to our knowledge, only 17 cases of oral Rosai-Dorfman disease without lymph node involvement have been found in the literature. Because of the rarity of these isolated oral presentations, the clinical and radiological aspects need to be more studied. This article aims to present a rare case of oral Rosai-Dorfman disease without nodal involvement, detail the clinical and radiological signs, and the treatment strategy used in our patient.

The non-communicating intracranial-extracranial Rosai-Dorfman disease: a case report / 中华神经科杂志

Rosai-Dorfman disease (RDD) is a benign self-limited disease characterized by lymphadenopathy and phagocytosis of lymphocytes by histiocytes. A case of intracranial-extracranial non communicating RDD was reported in this paper. The patient was admitted to Shiyan Taihe Hospital in May 2020 because of "the left top scalp tumor was found for 4 months, and the right lower limb was numb for more than half a month". The plain scan and enhanced scan of the patient′s head magnetic resonance imaging (MRI) showed that the disease focus of the left parietal bone was slightly uneven enhanced, its internal and external soft tissues were significantly enhanced, and the local internal and external soft tissues were significantly thickened irregularly, with the size of about 3.2 cm× 4.7 cm, and adjacent brain parenchyma was compressed. After resection of left top mass and intracranial mass, pathological results showed spindle cell proliferation with inflammatory reaction, and immunohistochemical staining results supported the diagnosis of RDD. The neurological function of the patient recovered to normal basically 7 months after operation, and no recurrence of the disease was found in the MRI examination of the head. The treatment effect was satisfactory.

Rosai-dorfman disease: a rare presentation of extranodal involvement of isolated bone. case report

ABSTRACT 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.

RESUMEN Introducción. La enfermedad de Rosai-Dorfman, también conocida como histiocitosis sinusal, es un trastorno poco frecuente caracterizado por la proliferación de histiocitos. Presentación del caso. Hombre de 33 años quien consultó al servicio de urgencias de una institución de tercer nivel de Cartagena de Indias, Colombia, por una deformidad de progresión lenta que apareció 6 meses atrás en el costado frontal derecho de la cara y generaba dolor. Al examen físico no hubo hallazgos mayores y los estudios paraclínicos fueron normales o negativos. Se obtuvieron imágenes que evidenciaron extenso compromiso inflamatorio/infeccioso del hueso frontal, por lo que se sospechó de osteomielitis y se realizó biopsia de la lesión que permitió establecer diagnóstico de enfermedad de Rosai-Dorfman variante extranodal con compromiso óseo aislado. El paciente recibió tratamiento con corticoide sistémico sin obtener respuesta, por lo que se adicionó metotrexato, con lo cual se logró mejoría a los 2 meses. Conclusiones. Las manifestaciones de la enfermedad de Rosai-Dorfman en población adulta son poco conocidas, además no hay mucha información sobre su tratamiento, por lo que el presente caso contribuye a ampliar la literatura sobre esta enfermedad que puede presentarse con sintomatología completamente inusual.

Enfermedad de Rosai-Dorfman primaria ósea

La enfermedad de Rosai-Dorfman es una patología poco común que suele presentarse con adenopatías cervicales indoloras. El compromiso óseo como presentación extraganglionar es aún menos frecuente. Se presenta el caso de una mujer de 38 años con 3 meses de dolor y limitación funcional en miembro inferior derecho. La radiografía simple y tomografía computarizada mostraron la presencia de una lesión ósea lítica en la metáfisis y epífisis distal del fémur derecho. Finalmente, el estudio histopatológico e inmunohistoquímico de la lesión determinó que se trataba de un caso de enfermedad de Rosai-Dorfman primaria ósea.

Rosai-Dorfman disease is a rare pathology that usually presents as painless cervical adenopathies. Bone compromise as an extra nodal presentation is even more uncommon. We present the case of a 38 years old woman with a 3 months history of pain and functional limitation of her right lower limb. X-ray and CT images showed a lytic bone lession at the distal metaphysis and epiphysis on her right femur. Histological and immunohistochemical study of the lession determined that it was a case of Rosai-Dorfman disease with bone involvement.

Treatment of Rosai-Dorfman disease / 中华皮肤科杂志

Rosai-Dorfman disease (RDD) , also known as sinus histiocytosis with massive lymphadenopathy, is a rare benign self-limited histiocytic proliferative disorder with undetermined etiology. There is still no specific treatment for RDD. Surgical excision is the first-line treatment, while topical and systemic therapy can be chosen for the patients who are not unfit for surgery. Classic topical therapies include topical treatment or local injection with glucocorticoids. Photodynamic therapy and laser immunotherapy are considered as promising topical treatments. Traditional systemic treatments include oral glucocorticoids, immunomodulators, acitretin, and so on. Rituximab is a new treatment option for patients with CD20-positive RDD. This review summarizes new progress in the treatment of RDD in recent years.

Cutaneous Rasai-Dorfman disease / 中华皮肤科杂志

Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder.The etiology and pathogenesis of RDD are still unclear,and may be associated with the activation of signal transduction pathways and inflammatory reactions induced by infection and immune dysfunction.CRDD is defined as the RDD involving only the skin.Histopathological examination of CRDD lesions shows that a large amount of histiocytes,lymphocytes and plasma cells infiltrate the dermis,and intact endocytosed lymphocytes can be observed in the cytoplasm of histiocytes,which is called emperipolesis.Immunohistochemical study shows that histiocytes are stained positive for S-100 and CD68,but negative for CD1a.The treatment of CRDD includes surgical excision,local therapy and systemic therapy.Lesions can subside spontaneously in some patients,and it usually has a favorable prognosis.

Enfermedad de Rosai-Dorfman (ERD) con compromiso exclusivo del sistema nervioso central. Presentación de caso y revisión de literatura / Rosai-Dorfman Disease (RDD) With Isolated Compromise of the Central Nervous System. Case Report and Literature Review

La enfermedad de Rosai-Dorfman (ERD) o histiocitosis sinusal con linfadenopatía masiva (HSLM) es una entidad histiocítica benigna rara, que usualmente afecta los ganglios linfáticos. Se han descrito algunos casos en el sistema nervioso central, y son excepcionales los que aparecen sin afección nodular concomitante. La falta de patrones imaginológicos cerebrales típicos puede llevar a una cirugía por un diagnóstico erróneo, con causas atribuidas a un probable origen maligno. Usualmente, el diagnóstico histopatológico se realiza después del procedimiento quirúrgico. Esta entidad clínico-patológica carece de consenso en diagnóstico, curso clínico y tratamiento. Se presenta un caso de ERD con extensión intracraneal, con la lectura retrospectiva de los estudios imaginológicos.

Rosai-Dorfman Disease (RDD) or Sinus Histiocytosis with Massive Lymphadenopathy (SHML) is a rare benign histiocytic disorder, usually affecting the lymph nodes. Intracranial involvement is an uncommon variant of the disease; however, intracranial lesions without concomitant nodular involvement is exceptional. The lack of typical brain imaging patterns can lead to surgery due to misdiagnosis, with causes attributed to a probable malignant origin. Histopathological diagnosis is usually made after the surgical procedure. There is no consensus related to diagnosis, clinical course and treatment of this disease. A case report is presented on isolated intracranial RDD, with a retrospective reading of the imaging studies.

Solitary extranodal Rosai-Dorfman disease of the mandible: an exceedingly rare presentation

Sinus histiocytosis with massive lymphadenopathy, generally known by the name of Rosai-Dorfman disease is a rare benign condition principally affecting cervical lymph nodes. Concurrent extra-nodal disease frequently occurs, however, solitary extra-nodal disease involving the mandible is exceedingly rare with less than five reported cases in the English literature. We describe a case of primary involvement of the mandible in a 27-year-old female, and discuss the differential diagnosis of this disease with other histiocytic lesions.

Generalized erythematous and scaly plaques and papules: a rare case of Rosai-Dorfman disease accompanied by multiple myeloma

Abstract: A 75-year-old male presented with generalized erythematous, scaly plaques and painless lymphadenopathy. Rosai-Dorfman disease was suspected based on clinical manifestations and confirmed by histopathologic and immune reactivity studies performed on the biopsy obtained from the left supraclavicular lymph node. The patient was also diagnosed with multiple myeloma according to urine electrophoresis, serum light chain assay, and bone marrow biopsy, which were initially performed for evaluation of anemia. This report highlights the dermatological manifestations of Rosai-Dorfman disease with generalized painless lymphadenopathy.

Immunoglobulin G4-related diseases mimics Rosai-Dorfman diseases: a series of 6 cases in China / 中华风湿病学杂志

Objective To summarize the clinical and pathologic characteristics of patients with RosaiDorfman disease (RDD) mimicking immunoglobulin (Ig) G4-related disease (IgG4-RD).Methods Retrospectively analyze the clinical manifestations,laboratory tests,pathologic features,treatment and prognosis of RDD patients whose clinical presentations mimicked IgG4-RD in Peking Union Medical College Hospital during January 2015 to June 2017.Results Six RDD patients mimicking IgG4-RD were described,which accounted for 1.5％ of the 450 registered IgG4-RD patients.All patients were male,with the median age of 53 year and the median disease duration of 12 months.All patients had extra-nodal involvements,of which the locations included spinal cord (3/6),intracranial (2/6),skin (2/6) and liver (1/6).Increased serum IgG4 (＞1 350 mg/L) was found in 4 cases (1 360-6 410 mg/L).Seven specimens were obtained from these patients.The number of IgG4-positive plasma cells was found to be more than 50 per HPF in 3 cases,30 per HPF in 1 case.The IgG4/IgG ratio was 40％ in 2 specimens,between 10％ and 30％ in 2 specimens and 10％ in 2 specimens.All patients were treated by glucocorticoids and 4 of them were treated with combined cyclophosphamide.Five patients got partial remission by these treatments while 1 patient withdrew from further follow up.Conclusion RDD is one of the mimics of IgG4-RD.There are several differences in lab tests and pathologic features between RDD and IgG4-RD.Before the IgG4-RD is diagnosed,RDD should be excluded by specific pathologic manifestations at the first place.

A case of cutaneous Rosai-Dorfman disease with increased IgG4-positive plasma cells / 中华皮肤科杂志

A 28-year-old female patient presented with indurated erythema and nodules on the right lower limb for 2 years,with mild itching and pain.Skin examination showed a well-circumscribed irregular dark red patch measuring about 10 cm × 5 cm in size on the extensor aspect of the right thigh.On the patch,there were scattered or densely distributed mung bean-to soybean-sized quasi-circular violaceous nodules with a smooth surface,which were hard on palpation.Subcutaneous nodules with medium hardness were found on palpation,and hyperpigmentation was observed on the surface of some nodules.Local skin temperature was increased,with tenderness on palpation.Histopathologically,mononuclear cells showed nodular or sheet-like distribution in the middle and upper dermis,some of which had pale-staining cytoplasm.Moreover,plenty of plasma cells were observed.Immunohistochemistry revealed that histiocytes were stained strongly positive for S100.The number of IgG4-positive plasma cells increased obviously,and was more than 50 per high-power field (× 200).The proportion of IgG4-positive plasma cells in IgG-positive plasma cells was 45％.Finally,the patient was diagnosed with cutaneous Rosai-Dorfman disease with increased IgG4-positive plasma cells.

Clinical manifestations and histopathological features of cutaneous Rosai-Dorfman disease / 中华皮肤科杂志

Objective To investigate clinical manifestations,morphological characteristics of skin lesions,and histopathological features of cutaneous Rosai-Dorfman disease (CRDD).Methods Basic information and clinical data were collected from 20 patients with CRDD.According to the morphological characteristics,the skin lesions were classified into different types,and then subjected to histopathological examination and immunohistochemical staining.Results Of the 20 patients with CRDD,11 had multiple lesions,and 9 had solitary lesions.Skin lesions involved single anatomical site in 16 patients,multiple anatomical sites in 4 patients,and there were a total of 24 involved anatomical sites.Skin lesions on the 24 sites were divided into 3 main types,including papulonodular type (10/24,41.67％),infiltrating plaque type (12/24,50.00％) and tumor-like type (2/24,8.33％).Of the 20 patients,6 had mixed-type skin lesions,including 5 with papulonodular-type lesions complicated by infiltrating plaque-type lesions,and 1 with infiltrating plaque-type lesions complicated by tumor-like lesions.There were similar histopathological manifestations of skin lesions among the 24 involved anatomical sites.Concretely speaking,varying numbers of large histiocytes were scattered or distributed in sheets in the dermis and/or subcutaneous adipose tissue,with infiltration of plenty of inflammatory cells,mainly lymphocytes and plasma cells.Moreover,varying numbers of lymphocytes and neutrophils were observed in the cytoplasm of histiocytes.Immunohistochemically,these histiocytes were stained positive for S100 and CD68,but negative for CD1a.At 17 anatomical sites,lesions affected the full-thickness dermis,and the subcutaneous adipose tissues were involved at 13 of 17 sites.Of the 24 involved anatomical sites,lesions only affected the superficial to middle dermis at 6 sites,and affected the deep dermis and subcutaneous adipose tissue at 1 site.There were no obvious differences in the extent of lesion involvement and pattern of inflammatory infiltration among different morphological types of skin lesions.Conclusions CRDD mainly manifests as papulonodular-type and infiltrating plaque-type lesions,and tumor-like lesions are rare.Histopathologically,varying numbers of emperipoletic histiocytes can be observed in lesions of different types.

The clinical and imaging characteristics of Rosai-Dorfman disease / 中华放射学杂志

Objective To summarize the clinical and imaging characteristics of Rosai-Dorfman disease (RDD) in order to improve the diagnosis of the disease.Methods The clinical and imaging features of 10 patients with RDD proved by pathology were retrospectively analyzed and the related literatures were reviewed.Results Ten patients including 7 males and 3 females,aged 8 to 54 years old,with average of 32 years old.White blood cells (BCA) and erythrocyte sedimentation rate (ESR) in 8 cases were normal.Eight cases manifested as painless enlarged lymph node or mass,of which 4 cases were accompanied with multisystem involvement.Three lesions involved lymph nodes,5 lesions were located in extranodal sites,while 2 lesions involved both lymph node and extranodal sites.RDD occurred in lymph nodes (n=3) manifested as multiple enlarged lymph nodes on CT imaging,showing mild or moderate the enhancement,or a heterogeneous ring-enhancement.Of 5 extranodal RDD lesions,3 cases underwent MR exmination.2 lesions manifested as subcutaneous soft tissue mass on left shoulder and anterior abdominal wall,1 lesion manifested as intracranial mass accompany with localised cranial bone destruction.Lesions in all 3 cases had poor margins and showed scatted areas of high signal on diffusion weighted images.Lesions exhibited remarkable heterogeneous enhancement on Gd-DTPA enhanced MR imaging,dural/fascia tail sign and dilated blood vessels could be found around the lesions.Intrahepatic RDD lesion showed fast washing out phenomenon on CT enhanced imaging.In 2 cases involved both lymph node and extranodal sites,1 case manifested as swelling pharyngeal lymph chain and nasopharynx,enlargement of lymph nodes in bilateral submandibular and cervical region abdominal cavity on CT imaging,the enhancement is mild and moderate,accompany with osteolytic lesions in right proximal humerus on X-ray.For the other case,CT images manifested as bilateral neck lymphadenopathy,accompanied with soft tissue mass in nasal cavity,the lesion showed mild/moderate enhancement.Conclusions RDD mostly appears in young and middle-aged men,and is rarely preoperatively diagnosed.RDD mainly manifests as painless enlarged lymph node or mass.RDD has a broad spectrum of radiographic appearance,varied according to different location of lesion.Scatted higher signal areas on diffusion weighted images in the masses and significantly heterogeneity enhancement with dilated blood vessels around the lesion could be helpful in diagnosing of extranodal RDD.

Histological variability and the importance of clinicopathological correlation in cutaneous Rosai-Dorfman disease

Abstract: Rosai-Dorfman disease is a benign histiocytic proliferative disorder of unknown etiology. The disease mainly affects lymph node tissue, although it is rarely confined to the skin. Here, we describe a 53-year-old woman with purely cutaneous Rosai-Dorfman disease. The patient presented with a large pigmented plaque on her left leg, and sparse erythematous papules on her face and arms. A complete clinical response was achieved with thalidomide, followed by recurrence at the initial site one year later. The histological examination displayed the typical features of Rosai-Dorfman disease in the recent lesions but not in the older lesions. In the setting of no lymphadenopathy, the histopathological features of Rosai-Dorfman disease are commonly misinterpreted. Therefore, awareness of the histological aspects present at different stages, not always featuring the hallmark microscopic signs of Rosai-Dorfman disease, is particularly important for a correct diagnosis of this rare disorder.

A rare case of Rosai-Dorfman disease without lymphadenopathy

No abstract available.

Case for diagnosis

Cutaneous Rosai-Dorfman disease is a rare, lymphoproliferative disease. It is benign and self-limited, only involves skin and subcutaneous tissue and typically occurs as histiocyte-rich inflammatory infiltrates, manifesting as erythematous to brown papules, plaques, or nodules, without predilection for site. The authors describe a case of cutaneous Rosai-Dorfman disease in a 72-year-old man who presented erythematous and scaled plaque on the right neck for three months without systemic symptoms. Owing to local involvement, the patient received a surgery to exsect the lesion completely and remained asymptomatic with no signs of recurrence at the 9-month follow up.

Rosai-Dorfman disease presenting with extensive cutaneous manifestation - Case report / Doença de Rosai-Dorfman com manifestação cutânea extensa - Relato de caso

Rosai-Dorfman disease is a benign, self-limited, idiopathic proliferative histiocytic disorder. It was first described in 1969 by Rosai and Dorfman. In its typical form the disease is characterized by extensive cervical lymphadenopathy associated with fever, polyclonal gammopathy and leukocytosis with neutrophilia. The skin is the most common site affected. Extranodal manifestations have been reported in 43% of cases. In this study, we report an atypical case of Rosai-Dorfman disease in a female with massive cutaneous manifestation on the thigh, associated with a minimal lymphadenopathy limited to the regional inguinal lymph nodes.

A doença de Rosai-Dorfman é uma desordem benigna, autolimitada, idiopática, decorrente da proliferação de histiócitos. Foi descrita pela primeira vez por Rosai e Dorfman em 1969. Tipicamente, a doença se caracteriza por extensa linfadenopatia cervical, febre, gamopatia monoclonal e leucocitose com neutrofilia. Manifestações extranodais são encontradas em 43% dos casos, sendo a pele o sítio extranodal mais comumente afetado. No trabalho, apresentamos um caso de doença de Rosai-Dorfman com apresentação cutânea exuberante na coxa direita e discreto comprometimento linfonodal limitado à cadeia regional.

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.

Rosai-Dorfman Disease: Report of a Case Associated with IgG4-Related Sclerotic Lesions

We describe a rare case of sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) associated with a six-year history of autoimmune pancreatitis, which was controlled by steroid treatment. The patient presented with multiple, cervical and thoracic lymphadenopathy and abnormal, nodular opacities in the lung. Histologically, Rosai-Dorfman disease with numerous IgG4-positive cells was identified in a subcutaneous lymph node in the patient's left forearm. The patient recovered uneventfully with steroid treatment.