RESUMO

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.

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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.

RESUMO

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.

RESUMO

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.

RESUMO

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.

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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.

Assuntos

RESUMO

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.

Assuntos

RESUMO

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.

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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.

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RESUMO

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.

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