Enfermedad de Rosai-Dorfman nasosinusal: actualización a propósito de un caso de obstrucción nasal progresiva / Nasosinusal Rosai-Dorfman disease: update on a case of progressive nasal obstruction

Resumen La histiocitosis sinusal con linfadenopatías masivas, conocida como enfermedad de Rosai-Dorfman (ERD), es una patología poco frecuente cuya presentación clásica consiste en el desarrollo de grandes adenopatías cervicales bilaterales indoloras. La manifestación extranodal puede involucrar compromiso cutáneo, del sistema nervioso central, hematológico, óseo, de la vía aérea, entre otros. Su diagnóstico es un desafío y requiere una evaluación completa del paciente incluyendo historia clínica, examen físico, exámenes de laboratorio, imágenes y estudio histopatológico que confirme el diagnóstico. El tratamiento debe ser individualizado para cada paciente. Las alternativas incluyen la observación, corticoides sistémicos, radioterapia, quimioterapia, inmunomoduladores y cirugía. Se presenta el caso de una paciente de 65 años con antecedente de enfermedad de Rosai-Dorfman localizada en glándulas lagrimales y linfoma no Hodgkin, que comienza con obstrucción nasal bilateral progresiva refractaria a tratamiento médico, por lo que se decide realizar cirugía, cuyo estudio histopatológico confirmó enfermedad de Rosai-Dorfman.

Abstract Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare pathology, with a classic clinical presentation of painless bilateral massive cervical lymphadenopathy. The extranodal manifestations may involve skin, central nervous system, hematological, bones, and airway compromise, among others. Its diagnosis is challenging and requires a complete evaluation of the patient including medical history, physical examination, laboratory testing, imaging and histopathological study to confirm the diagnosis. Treatment should be individualized for each patient, including follow-up, systemic corticosteroids, radiotherapy, chemotherapy, immunomodulators and surgery. We present the case of a 65-year-old patient with a history of RDD located in the lacrimal glands and lymphoma, which begins with progressive bilateral obstruction refractory to medical treatment, for which it is decided to perform surgery, whose histopathological study confirmed RDD.

Rosai Dorfman's disease of the maxillary bone with soft tissue involvement of the cheek: Case Presentation and Literature Review / Enfermedad de Rosai Dorfman de maxilar con compromiso de partes blandas de mejilla: Presentación de caso y revisión de la literatura

The Rosai-Dorfman disease (RDD) is a bening entity, of unknown etiology, rare, characterized by the overproduction of histiocytes and their subsequent accumulation in the lymph nodes, which may also compromise other organs and systems. It predominantly affects young people. The histological study, which shows emperipolesis, is very indicative but not pathognomonic, but with the immunohistochemistry the diagnosis of the disease is reached, which does not have a well-protocolized treatment. Its evolution is highly variable, with spontaneous remission being a possibility, although in some cases the commitment is extensive, compromising important or vital anatomical structures that requiere vigorous treatment, which can be surgical, radiotherapy and even chemotherapy. We present a case of RDD that affected a 17-year-old girl with upper jaw and right maxillary sinus commitment, which began with loss of teeth, and subsequent appearance of a painless and deforming facial tumour that underwent surgical resection. In this case, the etiological diagnosis was not posible in the preoperative period despite multiple biopsies. An extensive review of the literature is carried out in order to a better understanding of this pathology.

La Enfermedad de Rosai-Dorfman (ERD) es una entidad benigna, de etiología desconocida, poco frecuente, caracterizada por la sobreproducción de histiocitos y su posterior acúmulo en los linfonodos, pudiendo comprometer también a otros órganos y sistemas. Afecta predominantemente a personas jóvenes. El estudio histológico, que muestra emperipolesis, es muy orientativa pero no patognomónica, aunque con la Inmunohistoquímica se llega al diagnóstico de la enfermedad que no tiene un tratamiento bien protocolizado. Su evolución es muy variable, siendo la remisión espontánea una posibilidad, no obstante, en algunos casos, el compromiso es extenso, comprometiendo estructuras anatómicas importantes o vitales que requieren de un tratamiento enérgico, pudiendo ser éste quirúrgico, radioterápico y aún quimioterápico. Se presenta un caso de ERD que afectó a una joven de 17 años, con compromiso de maxilar y seno maxilar derecho, que debutó con pérdida de piezas dentarias y posterior aparición de un tumor facial indoloro y deformante que fue sometido a resección quirúrgica. En este caso no fue posible el diagnóstico etiológico en el preoperatorio pese a múltiples biopsias. Se hace una extensa revisión de la literatura con el objeto de conocer mejor esta patología.

Enfermedad de Rosai-Dorfman con compromiso laríngeo: a propósito de un caso / Rosai-Dorfman disease with laryngeal involvement: about a case

RESUMEN La enfermedad de Rosai-Dorfman (ERD) o histiocitosis sinusal con linfadenopatía masiva es una enfermedad infrecuente, de etiología desconocida caracterizada por linfadenopatías cervicales masivas bilaterales. El compromiso extraganglionar puede ocurrir en diferentes sitios, incluida la vía aérea, en la cual la localización nasosinusal es la más frecuente, pero puede comprometer también otros sitios de la vía aérea superior. Dentro de éstos, el compromiso laríngeo es muy poco frecuente. Se presenta el caso de una paciente de 82 años con antecedentes de ERD localizada en los ganglios linfáticos cervicales en remisión espontánea, que desarrolló posteriormente una obstrucción subaguda de las vías respiratorias. La tomografía computarizada y la nasofaringolaringoscopía mostraron lesiones subglóticas que obstruían severamente las vías respiratorias. Se realizó una traqueostomía de emergencia y biopsia de las lesiones, confirmando el diagnóstico de ERD extranodal.

ABSTRACT Rosai-Dorfman disease or sinus histiocytosis with massive lymphadenopathy is a rare disease of unknown etiology characterized by bilateral massive cervical lymphadenopathy. Extranodal involvement can occur in different sites including airway where nasosinusal involvement is common but this disease may occur in other sites of the upper airway. Laryngeal involvement is rare. We present the case of an 82-year-old female patient with a history of Rosai-Dorfman disease located in cervical lymph nodes in spontaneous remission that subsequently develops airway obstruction. Computed tomographic scan and nasopharyngolaryngoscopy showed subglottic lessons that severely obstructed the airway. Emergency tracheotomy and biopsy were performed, confirming the diagnosis of extranodal RDD. Patient was observed and tracheostomy was maintained with good tolerance.

Surgical Treatment of Rosai-Dorfman Intracranial Disease: Case Report and Literature Review

Rosai-Dorfman disease is a benign lymphoproliferative disease with rare occurrence in the overall population. The characteristic findings of the disease are emperipolesis on microscopy and S-100 protein positivity on immunohistochemistry. The present report describes the case of a 57-year-old man who presented with repeated seizures, urinary retention, and ataxia. Satisfactory results were obtained with surgical treatment. The diagnosis was confirmed by immunohistochemistry.

Enfermedad de Rosai-Dorfman mamario / Mammary Rosai Dorfman disease

Background: Rosai Dorfman disease is uncommon and consists in a benign fibrous and hematopoietic tissue proliferation, usually located in the head or neck. It is self-limited and the treatment is the surgical excision of the lesion. Case Report: We report a 69 years old woman consulting for a palpable right breast nodule with a mammography and mammary ultrasound informed as BIRADS 4 and 5, respectively. A core biopsy was informed as a mammary Rosai Dorfman disease. Two years later, due to a lesion growth, the patient was subjected to a partial mastectomy. The pathological study of the surgical piece confirmed the diagnosis of the core biopsy. This disease may resemble a malignant disease and the clue for its diagnosis is the pathological study.

Introducción: La enfermedad de Rosai Dorfman es una entidad infrecuente, que consiste en la proliferación benigna del tejido fibroso y hematopoyético ubicado generalmente en cabeza y cuello. Se trata de una enfermedad benigna, autolimitada, cuyo tratamiento generalmente se limita a la resección quirúrgica, con elevada tasa de recidiva. Objetivo: Exposición de un caso de Enfermedad de Rosai Dorfman mamario, inicial-mente sugerente de patología maligna. caso clínico: Mujer 69 años derivada de atención primaria por nódulo palpable en mama derecha, mamografía y ecografía mamaria BIRADS 4 y 5, respectivamente. Biopsia Core informa Enfermedad de Rosai Dorfman mamaria. A los dos años de diagnóstico se objetiva lesión de mayor tamaño. Se realizó mastectomía parcial con biopsia de pieza quirúrgica compatible con diagnóstico de Biopsia Core previa. Discusión: La similitud clínica de esta enfermedad con patologías malignas mamarias, asociado a su baja prevalencia, dificultan la pesquisa de casos como el expuesto. En los estudios de imágenes raramente se sospecha. La clave del diagnóstico son los hallazgos histológicos en el que característicamente se observa emperipolesis con tinciones inmunohistoquímicas positivas para S 100 y negativo para CD 1. Dado que es una enfermedad benigna y autolimitada su tratamiento generalmente se limita a la resección quirúrgica. Este permite extirpar el tumor en estudio, realizar el diagnóstico, y aliviar la sintomatología producida por el efecto masa de la lesión. A pesar de lo anterior la recidiva es alta, por lo que el seguimiento debe ser a largo plazo.

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.

Orbital Rosai-Dorfman disease in a fifty-eight years old woman

Rosai-Dorfman disease [RDD] is rare and characterized by histiocytic proliferation and massive cervical lymphadenopathy. About 40% of patients have extra-nodal involvement. Ophthalmic involvement is seen in 10% of cases. A case of orbital Rosai Dorfman disease in a 58 years old woman is presented here, who was misdiagnosed as orbital inflammatory disease initially. The patient did not respond to a course of oral prednisolone. Then complete surgical excision of the mass was performed and the histopathological examination was consistent with a diagnosis of RDD

Doença de Rosai-Dorfman cutânea: relato de caso / Cutaneous Rosai-Dorfman disease: a case report

A doença de Rosai-Dorfman, também denominada histiocitose sinusal com linfadenopatia maciça, é histiocitose de células não Langerhans, idiopática e de curso benigno. Descrita em 1969, caracteriza-se por linfadenomegalia não dolorosa, sendo a cadeia cervical a mais envolvida, além de febre, perda de peso e sudorese. O envolvimento extranodal ocorre em 43 por cento dos casos, em que múltiplos sítios podem ser acometidos. Já foram descritos casos exclusivamente extranodais, inclusive formas limitadas à pele. Relata-se um caso de doença de Rosai-Dorfman extranodal cutânea pura, devido à raridade dessa apresentação clínica.

Rosai-Dorfman disease, otherwise known as sinus histiocytosis with massive lymphadenopathy, is a non-Langerhans cell histiocytosis with a benign course and unknown etiology. It was described in 1969 as a painless cervical lymph node enlargement in association with fever, weight loss and sweating. Extranodal disease has been reported in 43 percent of cases, with involvement of multiple organs. Purely extranodal Rosai-Dorfman disease has been already reported, including forms restricted to the skin. This paper reports a case of purely cutaneous Rosai-Dorfman disease, which is of interest in view of the rarity of this condition.

Doença de Rosai-Dorfman cutânea / Cutaneous Rosai-Dorfman Disease

Doença de Rosai-Dorfman é uma doença benigna e autolimitada. Tem etiologia desconhecida e foi descrita pela primeira vez por Rosai e Dorfman em 1969. As manifestações clássicas incluem linfadenopatia cervical usualmente acompanhada por febre, leucocitose com neutrofilia e hipergamaglobulinemia policlonal. Apesar de a pele ser o principal sítio extranodal da doença, sua manifestação restrita à pele costuma ser bastante rara com poucos casos descritos na literatura. O trabalho tem como objetivo relatar um caso de Doença de Rosai-Dorfman cutânea com revisão da literatura onde são abordados os diferentes aspectos do diagnóstico e do tratamento dessa doença.

Rosai-Dorfman disease is a self-limited benign disease. Rosai and Dorfman first described it in 1969, and the etiology of the disease remains unknown. Main manifestations are cervical adenopathy associated with fever, leukocytosis with neutrophilia and polyclonal gamaglobulinemia. Although the skin is the most common site of extra nodal disease, Rosai-Dorfman disease restricted to the skin is very rare with only a few cases described in the literature. This paper reports a rare case of cutaneous Rosai-Dorfman with skin as the sole site, and reviews the controversies of diagnosis and treatment.

Síndrome Rosai-Dorfman de glándulas salivales / Rosai-Dorfman syndrome of the salivary glands

La enfermedad de Rosai Dorfman es un desorden multisistémico de etiología y patogénesis desconocidas, pero se piensa que representa un proceso reactivo histiocítico a un agente infectante en lugar de una neoplasia u otra condición primaria. Se han informado en la literatura menos de 1 000 casos que han estado asociados con disímiles enfermedades. Se hace referencia de un caso clínico atendido en la República Democrático Federal de Etiopía en el año 2003 con compromiso panglandular y diagnósticos previos inciertos hasta su conclusión definitiva(AU)

Rosai-Dorfman syndrome is a multisystemic disorder of unknown aetiology and pathogenesis, but it is thought that it represents a reactive histiocytic process to an infective agent instead of a neoplasia or other primary condition. Less than 1 000 cases associated with different diseases have been reported in literature. Reference is made to a clinical case cared for in the Federal Democratic Republic of Ethiopia in 2003 with panglandular compromise and uncertain previous diagnoses until its definitive conclusionRosai-Dorfman syndrome is a multisystemic disorder of unknown aetiology and pathogenesis, but it is thought that it represents a reactive histiocytic process to an infective agent instead of a neoplasia or other primary condition. Less than 1 000 cases associated with different diseases have been reported in literature. Reference is made to a clinical case cared for in the Federal Democratic Republic of Ethiopia in 2003 with panglandular compromise and uncertain previous diagnoses until its definitive conclusion(AU)

Enfermedades de Rosai-Dorfman: Presentación de un caso clínico de interés / Rosal-Dodfman's disease: presentation of a clinical case of interest

En esta comunicación se presenta el estudio clinicopatológico de un caso con afectación masiva de ambas órbitas como única manifestación de la enfermedad de Rosai-Dorfman. En el examen clínico se constató una exoftalmía maligna bilateral, en la TAC realizada se pudo apreciar la ocupación de las órbitas por múltiples masas tumorales. En el estudio histológico de esta tumoraciones se comprobó una marcada fibrosis y proliferación de los histocitos, varios de ellos cargados de núcleos linfoides sin desintegrarse, lo que constituye la emperipolesis; cuadro histológico que corresponde a la enfermedad de Rosai-Drofman. En este paciente se realizó un tratamiento quirúrgico por vía anterior para eliminar las masas tumorales de las órbitas. Actualmente recibe tratamiento con quimioterapia, esteroides y radioterapia externa. Es de interés señalar que éste es el primer caso reportado en Cuba con las características antes descritas

Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) and extranodal involvement of the orbit

We present the case of a 5-year-old boy who was referred to the Neurosurgical Service of the San Jorge Children's Hospital for evaluation of right eye proptosis. At the age of one year the diagnosis of sinus histiocytosis with massive lymphadenopathy (SHML) had been rendered on a cervical lymph node biopsy. The right orbit mass causing the proptosis was the result of extranodal involvement of the orbital tissue by SHML. The clinical and pathologic features of this entity are discussed