RESUMEN
BACKGROUND: Rosai-Dorfman disease (RDD) is a form of non-Langerhans cell histiocytosis in which the activated histiocytes of the lymph nodes and other organs begin to accumulate following excessive production. Bilateral, massive, and painless lymphadenopathy are classic presentations. Systemic RDD is already known to be a rare condition, but isolated cutaneous RDD is extremely rare. We presented a rare and unusual presentations of a disease. CASE PRESENTATION: A 35-year-old Thai female with a 6-month history of a small acne-like lesion that rapidly progressed to 5 cm tumor-like lesions on the face within 3 months. Tissue histology showed a dense dermal infiltration of histiocytes with emperipolesis phenomenon. Immunohistochemistry was positive for S100 protein and CD68 and negative for CD1a. Oral prednisolone (50 mg/day) was initiated with a favorable outcome at the one-month follow-up. However, prednisolone yielded a partial response at 2-month follow-up, leading to application of another modality. CONCLUSION: Although cutaneous Rosai-Dorfman disease is considered benign and well medical responded disease, patients with atypical presentation and rapid growing lesion may necessitate aggressive multimodal treatment.
Asunto(s)
Histiocitosis Sinusal , Linfadenopatía , Enfermedades de la Piel , Humanos , Femenino , Adulto , Histiocitosis Sinusal/metabolismo , Histiocitosis Sinusal/patología , Enfermedades de la Piel/patología , Histiocitos/metabolismo , Histiocitos/patología , Linfadenopatía/patología , PrednisolonaRESUMEN
AIMS: The aim was to test the expression of PU.1 on different types of histiocytoses and to test the utility of PU.1 in confirming or excluding a histiocytic origin in tumour samples with suspicion of histiocytosis. METHODS AND RESULTS: We analysed 66 biopsies of nonmalignant histiocytoses represented by Langerhans-cell histiocytosis (n = 13), Erdheim-Chester disease (ECD) (n = 19), Rosai-Dorfman disease (RDD) (n = 14), mixed ECD-RDD (n = 3), ALK-positive histiocytosis (n = 6), and juvenile xanthogranuloma (n = 11). All cases were positive for PU.1 in reactive and neoplastic histiocytes. In addition, 39 cases of tumours with high-grade cytological atypia were referred to our center as suspicion of malignant histiocytosis/histiocytic sarcoma and only 18 were confirmed. Indeed, more than half of these tumours (21/39) were either undifferentiated malignant tumours with a stroma rich in histiocytes, diffuse large B-cell lymphoma, or high-grade dedifferentiated liposarcoma. PU.1 was useful to distinguish between the negativity of large atypical nuclei and the positivity of stromal reactive histiocytes. CONCLUSION: PU.1 is expressed by all types of histiocytosis. It distinguishes histiocytosis from histiocyte-rich tumours with an easy interpretation due to its sharp nuclear staining. Its negativity in lesional/tumour cells in histiocyte-like lesions is useful to eliminate a histiocytosis.
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Enfermedad de Erdheim-Chester , Neoplasias Hematológicas , Histiocitosis de Células de Langerhans , Histiocitosis Sinusal , Histiocitosis , Humanos , Histiocitos/patología , Histiocitosis/diagnóstico , Histiocitosis/patología , Histiocitosis de Células de Langerhans/diagnóstico , Histiocitosis de Células de Langerhans/patología , Histiocitosis Sinusal/metabolismo , Histiocitosis Sinusal/patología , Enfermedad de Erdheim-Chester/patología , Neoplasias Hematológicas/patologíaRESUMEN
OBJECTIVES: Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytic proliferative disorder. We performed a retrospective study to characterize the clinical and [18F]FDG PET/CT features of RDD. METHODS: We retrospectively recruited 38 RDD patients with [18F]FDG PET/CT scan in our center. [18F]FDG PET/CT features were assessed, and clinical and follow-up data were recorded. RESULTS: In the recruited patients, 20/38 (52.6%) patients had single-system disease, while others (18/38, 47.4%) had disease affecting multiple system. RDD most commonly involved the upper respiratory tract (47.4%), followed by cutaneous/subcutaneous lesion (39.5%), lymph node (36.8%), bone (31.6%), central nervous system (28.9%), and cardiovascular system (13.2%) in the recruited patients. In PET/CT, the RDD lesions were FDG-avid, and the SUVmax of the hottest lesion in an individual patient was positively correlated with C-reactive protein levels (r = 0.418, p = 0.014), and negatively correlated with hemoglobin levels (r = -0.359, p = 0.036). The overall response rate of the first-line treatment was 80.8% in newly diagnosed RDD patients, and for patients with relapsed/progressive RDD, the overall response rate was 72.7%. CONCLUSION: [18F]FDG PET/CT could be a useful tool for evaluating RDD. KEY POINTS: ⢠About half of the patients with Rosai-Dorfman disease had single-system disease, while others had disease affecting multiple system. Rosai-Dorfman disease most commonly involved the upper respiratory tract, followed by cutaneous/subcutaneous lesion, lymph node, bone, central nervous system, and cardiovascular system. ⢠In [18F]FDG PET/CT, Rosai-Dorfman disease was usually hypermetabolic, and the SUVmax of the hottest lesion in an individual patient was positively correlated with C-reactive protein levels. ⢠Rosai-Dorfman disease usually has a high overall response rate after treatment.
Asunto(s)
Histiocitosis Sinusal , Tomografía Computarizada por Tomografía de Emisión de Positrones , Humanos , Histiocitosis Sinusal/diagnóstico por imagen , Histiocitosis Sinusal/metabolismo , Histiocitosis Sinusal/patología , Estudios Retrospectivos , Fluorodesoxiglucosa F18 , Proteína C-ReactivaRESUMEN
OBJECTIVES: Rosai-Dorfman disease (RDD) is a rare disorder characterized by the accumulation of large S100 protein-positive histiocytes that typically exhibit emperipolesis. The recently reported expression of Oct-2 in RDD histiocytes led us to explore whether PU.1, a transcription factor that is required for monocyte and B-cell development, could similarly function as a diagnostic marker in RDD. METHODS: We evaluated the expression of PU.1 and Oct-2 using immunohistochemistry in 19 patients diagnosed with RDD involving nodal, extranodal, and cutaneous sites. RESULTS: Both PU.1 and Oct-2 were positive in all cases studied, with a strong intensity of staining in 84% of cases in which more than 50% of the lesional cells were positive. In three patients, both markers showed weak to moderate intensity of staining. Two patients had concomitant RDD and Langerhans cell histiocytosis in which PU.1 stained both types of histiocytes while Oct-2 stained only the RDD component. CONCLUSIONS: PU.1 emerged as a robust marker with crisp nuclear staining in RDD histiocytes as well as in engulfed inflammatory cells. Strong coexpression of PU.1 and Oct-2 is a useful diagnostic marker in differentiating histiocytic/dendritic cell proliferations.
Asunto(s)
Histiocitosis Sinusal , Humanos , Histiocitosis Sinusal/diagnóstico , Histiocitosis Sinusal/metabolismo , Histiocitos/metabolismo , Emperipolesis , Proteínas S100/metabolismo , InmunohistoquímicaRESUMEN
Three cases of primary Rosai-Dorfman disease of the thymus and lung are presented. The patients are 3 men between the ages of 42 and 47 years who presented with non-specific symptoms including cough, chest pain, and shortness of breath. Clinically, the patients did not have any other pertinent clinical history. Diagnostic imaging revealed in one patient a cystic anterior mediastinal mass, while in two other patients the imaging was that of an intrapulmonary mass, one in the right upper lobe and the other in the left lower lobe. The three patients undergo surgical resection of the mass. In the cases in which the tumor mass was in the lung, both patients had a lobectomy while in the patient with anterior mediastinal mass, surgical resection via thoracotomy was performed. The intrapulmonary tumors were described as soft and yellowish measuring 2.5 and 3.0 cm in greatest diameter, while the mediastinal mass was described as cystic measuring 4.0 cm in diameter. Histologically, all tumors show similar features in terms of a proliferation of large histiocytes admixed with an inflammatory component composed predominantly of plasma cells. Immunohistochemical stains show positive staining for CD68 and S-100 protein, while negative for keratin, CD1a, and langerin. The cases herein presented highlight the ubiquitous distribution of Rosai-Dorfman disease and the importance of keeping this entity in the differential diagnosis of histiocytic proliferation in the thymus or lung.
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Histiocitosis Sinusal , Adulto , Diagnóstico Diferencial , Histiocitos/metabolismo , Histiocitosis Sinusal/diagnóstico , Histiocitosis Sinusal/metabolismo , Histiocitosis Sinusal/patología , Humanos , Pulmón/patología , Masculino , Persona de Mediana Edad , Proteínas S100RESUMEN
OBJECTIVE AND IMPORTANCE: Rosai-Dorfman disease (RDD) is a benign and rare non-Langerhans cell histiocytic proliferative disorder. Laryngeal involvement is an unusual site of extranodal involvement of RDD. Laryngeal RDD can cause life-threatening airway obstruction that requires effective control of the disease. In this study, we report three cases of laryngeal RDD with excellent and durable responses to thalidomide. CLINICAL PRESENTATION: Patient 1 was a 39-year-old male who presented with a two-year history of nasal obstruction. Patient 2 was a 26-year-old woman who presented complaining of a hoarse voice for one year. Patient 3 was a 24-year-old man who presented with complaints of a hoarse voice and progressing dyspnea for five months. Electronic laryngoscopy revealed submucous nodular lesions in the nasal cavity, nasopharynx, and larynx of the three patients. Biopsy of the lesions showed large histiocytes with abundant pale cytoplasm which were S-100 and CD68 positive consistent with RDD. INTERVENTION: Before thalidomide treatment, patient 1 received chemotherapy and six times surgical excision due to the recurrence of laryngeal lesions. Patient 2 failed steroid treatment. Patient 3 underwent an emergency tracheostomy due to airway obstruction. All three patients then received thalidomide 100â mg/d treatment and achieved satisfactory and durable responses with the longest follow-up of 45 months. CONCLUSION: Thalidomide may induce long-term remission in laryngeal RDD.
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Histiocitosis Sinusal/tratamiento farmacológico , Enfermedades de la Laringe/tratamiento farmacológico , Talidomida/administración & dosificación , Adulto , Femenino , Histiocitosis Sinusal/metabolismo , Histiocitosis Sinusal/patología , Humanos , Enfermedades de la Laringe/metabolismo , Enfermedades de la Laringe/patología , Laringe/metabolismo , Laringe/patología , Masculino , Inducción de RemisiónRESUMEN
A 47-year-old white man presented with a 14-month history of an asymptomatic 2-cm, slow-growing nodular lesion on his left shin that arose in the background of a black tattoo. An excisional biopsy followed by histological examination revealed a prominent lymphohistiocytic infiltrate, with many large, foamy histiocytic cells containing intact inflammatory cells within their cytoplasm, findings consistent with emperipolesis, a feature typical of Rosai-Dorfman disease (RDD). By immunohistochemistry, S-100 (a marker that is positive in almost all cases of RDD) was negative, arguing against the diagnosis of RDD. In addition, prominent black tattoo pigment was seen in many areas, expanding the differential diagnosis to include an unusual reactive lymphohistiocytic response to the tattoo mimicking RDD. Histologically, RDD shows many plasma cells, neutrophils, lymphocytes, and histiocytes with abundant foamy cytoplasm that contains intact lymphocytes and other cells, a phenomenon described as emperipolesis. A wide variety of cutaneous reactions to tattoos have been described, including tenderness, burning pain, inflammation, and pruritus. However, histologic features suggestive of RDD as a reaction to tattoo pigment have not been previously described and should therefore also be considered as a potential rare reaction pattern to tattoos.
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Reacción a Cuerpo Extraño/patología , Histiocitosis Sinusal/patología , Tinta , Piel/patología , Tatuaje/efectos adversos , Biomarcadores/análisis , Biopsia , Diagnóstico Diferencial , Reacción a Cuerpo Extraño/inducido químicamente , Reacción a Cuerpo Extraño/metabolismo , Histiocitosis Sinusal/etiología , Histiocitosis Sinusal/metabolismo , Humanos , Inmunohistoquímica , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Proteínas S100/análisis , Piel/químicaRESUMEN
No disponible
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Humanos , Femenino , Persona de Mediana Edad , Enfermedades Óseas/diagnóstico por imagen , Fluorodesoxiglucosa F18 , Histiocitosis Sinusal/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Radiofármacos , Enfermedades Óseas/metabolismo , Fémur/diagnóstico por imagen , Fémur/metabolismo , Fluorodesoxiglucosa F18/farmacocinética , Histiocitosis Sinusal/metabolismo , Histiocitosis Sinusal/patología , Tomografía de Emisión de Positrones , Radiofármacos/farmacocinética , Tibia/diagnóstico por imagen , Tibia/metabolismoAsunto(s)
Enfermedades Óseas/diagnóstico por imagen , Fluorodesoxiglucosa F18 , Histiocitosis Sinusal/diagnóstico por imagen , Tomografía Computarizada por Tomografía de Emisión de Positrones , Radiofármacos , Enfermedades Óseas/metabolismo , Femenino , Fémur/diagnóstico por imagen , Fémur/metabolismo , Fluorodesoxiglucosa F18/farmacocinética , Histiocitosis Sinusal/metabolismo , Histiocitosis Sinusal/patología , Humanos , Persona de Mediana Edad , Radiofármacos/farmacocinética , Tibia/diagnóstico por imagen , Tibia/metabolismoRESUMEN
Primary cutaneous Rosai-Dorfman disease is a rare form of Rosai-Dorfman disease limited to the skin. The diagnosis of primary cutaneous disease is based on a combination of clinical presentation, histopathology, and the detection of S100+, CD68+, and CD1a- histiocytic immunophenotyping. However, the diagnosis of primary cutaneous disease is often difficult and significantly delayed due to the non-specific nature of its histologic and clinical features. In this review, we describe four cases in order to familiarize pathologists and dermatopathologists with the clinicopathologic correlation of primary cutaneous Rosai-Dorfman disease and to help facilitate early diagnosis. In addition, we discuss the proposed pathophysiology and molecular etiology of this tumor, and its relationship with IgG4 sclerosing disease.
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Histiocitosis Sinusal/metabolismo , Histiocitosis Sinusal/patología , Inmunofenotipificación/métodos , Enfermedades de la Piel/patología , Administración Tópica , Adulto , Anciano , Antígenos CD/metabolismo , Antígenos CD1/metabolismo , Antígenos de Diferenciación Mielomonocítica/metabolismo , Biopsia , Diagnóstico Diferencial , Emperipolesis , Femenino , Histiocitos/patología , Histiocitosis Sinusal/fisiopatología , Histiocitosis Sinusal/terapia , Humanos , Inyecciones Intralesiones , Linfadenopatía/patología , Masculino , Persona de Mediana Edad , Proteínas S100/metabolismo , Esteroides/administración & dosificación , Esteroides/uso terapéuticoAsunto(s)
Regeneración Ósea , Histiocitosis Sinusal/diagnóstico por imagen , Osteólisis/diagnóstico por imagen , Vértebras Torácicas/diagnóstico por imagen , Adolescente , Dolor de Espalda/etiología , Biopsia , Proteína C-Reactiva/metabolismo , Histiocitosis Sinusal/complicaciones , Histiocitosis Sinusal/metabolismo , Histiocitosis Sinusal/patología , Humanos , Imagen por Resonancia Magnética , Osteólisis/complicaciones , Osteólisis/patología , Tomografía de Emisión de Positrones , Remisión Espontánea , Vértebras Torácicas/patología , Tomografía Computarizada por Rayos XRESUMEN
OBJECTIVE/BACKGROUND: Intra ocular Rosai-Dorfman disease (RDD) is an extremely rare disease. We are reporting the first case of RDD presenting as ciliary body mass mimicking ciliary body melanoma, and we are reviewing the English literature reporting on cases of RDD presented with intraocular disease. METHODS: An 18-year-old lady presented with loss of vision in the right eye, and was found to have intraocular mass lesion. She was diagnosed clinically and radiologically as a case of ciliary body melanoma associated with total retinal detachment. RESULTS: Histopathological sections and stains proved to be intraocular RDD. Review of the literature revealed three cases of intraocular RDD; two of them had choroid thickening associated with serous retinal detachment, and one presented with intraocular mass mimicking choroid melanoma. Two of the three cases were enucleated. Our case is the first case in English literature of intraocular ciliary body RDD, mimicking ciliary body melanoma. CONCLUSION: RDD can present as an intraocular mass that mimics ciliary body melanoma. This case emphasizes the importance of diagnostic biopsy before considering the final therapy in unclear cases, mainly when associated with unusual systemic features like lymphadenopathy.
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Histiocitosis Sinusal , Melanoma , Neoplasias de la Úvea , Adolescente , Diagnóstico Diferencial , Femenino , Histiocitosis Sinusal/diagnóstico , Histiocitosis Sinusal/metabolismo , Histiocitosis Sinusal/patología , Histiocitosis Sinusal/terapia , Humanos , Melanoma/diagnóstico , Melanoma/metabolismo , Melanoma/patología , Melanoma/terapia , Neoplasias de la Úvea/diagnóstico , Neoplasias de la Úvea/metabolismo , Neoplasias de la Úvea/patología , Neoplasias de la Úvea/terapiaRESUMEN
Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytic proliferation that occurs in nodal and extranodal sites. Rare examples of the disease involving the digestive system have been described. To characterize the digestive tract manifestations of this disease, 12 specimens from 11 patients with extranodal RDD affecting the digestive organs were analyzed. Hematoxylin and eosin sections and available immunohistochemical stains were reviewed, and the clinical information was obtained from patients' electronic or submitted records. Eight patients were female and 3 male (median age, 65 y; range, 17 to 76 y). Abdominal pain was the most frequent symptom. Six patients had an associated immunologic or malignant disease. Nine lesions arose in the gastrointestinal tract (1 involving the appendix, 2 right colon, 6 left colon), 2 in the pancreas, and 1 in the liver. Two patients had the coexistent nodal disease, and 1 had bone and soft-tissue involvement. The lesions were generally composed of polygonal to spindle-shaped histiocytes with eosinophilic to clear cytoplasm admixed with lymphoplasmacytic cells. The inflammatory cells formed lymphoid aggregates in 7 cases and included focally scattered or small collections of neutrophils in 6 cases. Fibrosis was variable, and 4 cases had a storiform pattern. Vasculopathy in the form of a thickened capillary wall, medium-sized arterial wall infiltration by lesional and inflammatory cells and phlebitis was seen in 10, 5, and 2 cases, respectively. All cases were reactive for S100-protein. Of the 5 patients with follow-up, 1 developed immunoglobulin A nephropathy and died of renal failure.
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Proliferación Celular , Enfermedades del Sistema Digestivo/patología , Sistema Digestivo/irrigación sanguínea , Sistema Digestivo/patología , Histiocitos/patología , Histiocitosis Sinusal/patología , Enfermedades Vasculares/patología , Adolescente , Anciano , Bases de Datos Factuales , Diagnóstico Diferencial , Sistema Digestivo/química , Enfermedades del Sistema Digestivo/metabolismo , Femenino , Fibrosis , Histiocitos/química , Histiocitosis Sinusal/metabolismo , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Proteínas S100/análisis , Enfermedades Vasculares/metabolismoRESUMEN
Rosai-Dorfman disease (RDD) is an uncommon disorder, characterized by an atypical expansion of histiocytes which classically shows emperipolesis and immunoreactivity with S-100 protein. RDD affects the lymph nodes as well as extranodal sites; however, RDD of the breast is exceptionally rare. Herein, we describe the histopathologic features of 22 cases of RDD occurring in the breast, with an emphasis on the differential diagnosis. All cases were notable for an exuberant lymphocytic infiltrate with and without germinal center formation, and the majority (19/22) showed numerous plasma cells: 5 to 132/high-power field (HPF). IgG and IgG4 immunohistochemical stains were available for 13 cases; in no instance were criteria for IgG4-related sclerosing disease met, though in a single case the IgG4/IgG ratio was increased to 25%. Sclerosis was present in the majority of cases (18/22), and was frequently prominent. RDD cells showing emperipolesis were present in all cases (22/22), and ranged from rare (<1/50 HPF) to numerous (>50/50 HPF). Two of the cases in our series were initially misdiagnosed as inflammatory myofibroblastic tumor and plasma cell mastitis with granulomatous inflammation. As emperipolesis can be indistinct, the presence of stromal fibrosis and a prominent lymphoplasmacytic inflammatory infiltrate should prompt a careful search for the characteristic histiocytes, which can be aided by the use of S-100 immunohistochemistry.
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Enfermedades de la Mama/inmunología , Mama/inmunología , Histiocitosis Sinusal/inmunología , Inmunoglobulina G/análisis , Neoplasias Inflamatorias de la Mama/inmunología , Mastitis/inmunología , Células Plasmáticas/inmunología , Adolescente , Adulto , Anciano , Mama/química , Mama/patología , Enfermedades de la Mama/metabolismo , Enfermedades de la Mama/patología , Diagnóstico Diferencial , Emperipolesis , Femenino , Fibrosis , Histiocitosis Sinusal/metabolismo , Histiocitosis Sinusal/patología , Humanos , Neoplasias Inflamatorias de la Mama/química , Neoplasias Inflamatorias de la Mama/patología , Mastitis/metabolismo , Mastitis/patología , Persona de Mediana Edad , Células Plasmáticas/química , Células Plasmáticas/patología , Pronóstico , Proteínas S100/análisis , Estados Unidos , Adulto JovenRESUMEN
Rosai-Dorfman disease (RDD) is an enigmatic histiocytic disorder classically diagnosed by a distinctive combination of pathological features: emperipolesis, or migration of intact haematological cells through the voluminous cytoplasm of lesional histiocytes, and expression of S100 by these histiocytes. The pathogenesis has long been elusive until the recent detection of recurrent and mutually exclusive mutations in several oncogenes in the mitogen-activated protein kinase (MAPK) pathway. Based on these findings, we investigated a cohort of 21 RDD patients and found that the lesional histiocytes in 86% (18/21) of patients exhibited strong and diffuse nuclear Cyclin D1 expression, which not only may provide a diagnostic marker for this sometimes pathologically challenging disease, but also probably reflects constitutive MAPK pathway activation because we additionally identified phosphorylated-ERK expression in 90% (19/21) of cases. Further, we performed massively parallel sequencing on a subset (6/18) of the CyclinD1 positive cases, identifying several mutations that have not been previously reported in RDD. Taken together, our findings bolster the concept of RDD as a disease of MAPK activation in a substantial percentage of cases and enhance the current understanding of the pathogenesis of RDD.
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Núcleo Celular , Ciclina D1 , Regulación de la Expresión Génica , Histiocitosis Sinusal , Sistema de Señalización de MAP Quinasas/genética , Mutación , Adulto , Anciano , Núcleo Celular/genética , Núcleo Celular/metabolismo , Núcleo Celular/patología , Ciclina D1/biosíntesis , Ciclina D1/genética , Femenino , Histiocitosis Sinusal/genética , Histiocitosis Sinusal/metabolismo , Histiocitosis Sinusal/patología , Humanos , Masculino , Persona de Mediana EdadAsunto(s)
Anticuerpos Monoclonales/uso terapéutico , Antineoplásicos/uso terapéutico , Histiocitosis Sinusal/diagnóstico , Histiocitosis Sinusal/tratamiento farmacológico , Anticuerpos Monoclonales/administración & dosificación , Anticuerpos Monoclonales/efectos adversos , Antineoplásicos/administración & dosificación , Antineoplásicos/efectos adversos , Histiocitosis Sinusal/metabolismo , Humanos , Inmunohistoquímica , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Índice de Severidad de la Enfermedad , Tomografía Computarizada por Rayos X , Resultado del TratamientoRESUMEN
PURPOSE: To describe the ophthalmic, pathologic, and BRAF V600E mutation status of Rosai-Dorfman disease (RDD). DESIGN: Retrospective case series. METHODS: A retrospective review of all cases of RDD seen at Mayo Clinic from 1992 to 2016 identified patients with ophthalmic manifestations (n = 8). Immunostain for BRAF and molecular studies for BRAF V600E mutation were performed on cases with tissue available. RESULTS: Of 76 patients with RDD, 15 had eye examinations; of those, 8 (5 female and 3 male) had ophthalmic manifestations. In RDD patients with ophthalmic manifestations compared to RDD patients without ophthalmic manifestations, the respective median (range) age in years was 42 (15-70) and 56 (32-79) (P = .13) and median (range) logMAR visual acuity was 0.048 (0.000-1.824) and 0.000 (-0.124 to 0.301) (P = .19). Of the 8 patients with ophthalmic manifestations, 4 had ocular involvement and 4 had orbital masses. Patients with ocular involvement had multiorgan disease including tracheal, aortic, renal, skeletal, and soft tissue lesions (n = 4). Patients with orbital masses had no systemic involvement (n = 2), skeletal involvement only (n = 1), or multiorgan disease (n = 1). BRAF immunostaining and molecular studies were negative in all available specimens (n = 6). CONCLUSIONS: In this series of patients with ophthalmic manifestations of RDD, those with ocular involvement had multiorgan disease while those with orbital masses had more limited systemic disease. Patients with ophthalmic manifestations tended to be younger and have worse visual acuity. Additionally, ophthalmic RDD does not seem to be associated with BRAF mutation.
Asunto(s)
Histiocitosis Sinusal/diagnóstico , Enfermedades Orbitales/diagnóstico , Adolescente , Adulto , Anciano , Femenino , Histiocitosis Sinusal/genética , Histiocitosis Sinusal/metabolismo , Humanos , Técnicas para Inmunoenzimas , Masculino , Persona de Mediana Edad , Enfermedades Orbitales/genética , Enfermedades Orbitales/metabolismo , Reacción en Cadena de la Polimerasa , Proteínas Proto-Oncogénicas B-raf/genética , Proteínas Proto-Oncogénicas B-raf/metabolismo , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Agudeza VisualRESUMEN
Rosai-Dorfman disease (sinus histiocytosis with massive lymphadenopathy) is a rare systemic histiocytic disorder of unknown etiology characterized by the accumulation of enlarged non-Langerhans histiocytes within lymph nodes and extranodal sites. The histiocytes display characteristic emperipolesis (nondestructive engulfment of inflammatory cells) and are CD68 and S100 positive and CD1a negative. Although extranodal disease frequently occurs with nodal involvement, isolated extranodal disease is uncommon. We report a case of isolated localized subcutaneous multinodular disease on FDG PET/CT. We also include a companion classic Rosai-Dorfman case with extensive nodal involvement and a characteristic benign clinical course with spontaneous improvement.