RESUMO
Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis disorder characterized by the proliferation of histiocytes within the lymph nodes. Extranodal involvement can occur; however, only 10% of extranodal RDD involve the skin. We present a unique case of a 66-year-old woman with cutaneous RDD followed by the development of multiple myeloma (MM). To our knowledge, this is only the second reported case where RDD preceded a diagnosis of MM, with the first documented instance occurring in 2018. The patient presented to the dermatology clinic with a 5-year history of painless, solitary lesion over the right cheek. Local examination revealed a single 6 mm x 7 mm well-circumscribed pearly telangiectatic lesion resembling basal cell carcinoma over the right nasolabial fold and cheek. The lesion was excised with a 3 mm circumferential margin. Histopathology showed a mixed lymphohistiocytic cell infiltrate with emperipolesis and immunohistochemical staining patterns consistent with RDD. Two years later, the patient presented with hip pain and was diagnosed with MM. She was treated with lenalidomide, bortezomib, and dexamethasone, and was later maintained on lenalidomide. Our case adds to the limited evidence suggesting a potential association between RDD and MM. Further research in this field is required to promptly identify and manage patients with such a presentation in the future.
Assuntos
Carcinoma Basocelular , Histiocitose Sinusal , Mieloma Múltiplo , Humanos , Histiocitose Sinusal/diagnóstico , Histiocitose Sinusal/patologia , Feminino , Idoso , Mieloma Múltiplo/diagnóstico , Mieloma Múltiplo/patologia , Carcinoma Basocelular/patologia , Carcinoma Basocelular/diagnóstico , Diagnóstico Diferencial , Neoplasias Cutâneas/patologia , Neoplasias Cutâneas/diagnóstico , Face/patologiaRESUMO
BACKGROUND: Sinus histiocytosis with massive lymphadenopathy, also known as Rosai-Dorfman disease, is a rare, self-limiting disease that predominantly affects children and young adults. Moreover, the disease is characterized by painless bilateral cervical lymphadenopathy in 95% of the patients. However, few reports are available on the Rosai-Dorfman disease of the thymus. CASE PRESENTATION: We report a rare case of thymic Rosai-Dorfman disease detected using computed tomography. During a medical examination, a 50-year-old man underwent a chest computed tomography scan, which revealed an anterior mediastinal single mass with fat in the thymus. A thymectomy was performed to completely remove the tumor using a thoracoscopic technique due to a clinical suspicion of thymoma. Furthermore, Rosai-Dorfman disease was confirmed using histological and immunohistochemical analyses. CONCLUSIONS: To the best of our knowledge, this is the sixth case of thymus-affecting solitary Rosai-Dorfman disease with histological and immunohistochemical evidence. Fat in the thymus, as was present in this case, has never been described in Rosai-Dorfman disease previously. Our results highlight the challenge of diagnosing this uncommon tumor before surgery, and more cases need to be reported to help with the preoperative diagnosis of such a rare tumor.
Assuntos
Histiocitose Sinusal , Doenças do Mediastino , Neoplasias , Masculino , Criança , Humanos , Pessoa de Meia-Idade , Histiocitose Sinusal/diagnóstico , Histiocitose Sinusal/cirurgia , Histiocitose Sinusal/patologia , Tomografia Computadorizada por Raios X/métodos , Doenças do Mediastino/diagnóstico , Diagnóstico DiferencialRESUMO
Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis characterized by massive lymphadenopathy and systemic extranodal lesions. We present the case of a 28-year-old woman who presented with recurrent blurred vision in her right eye for 3 months. She developed blindness and atrophy in her left eye a decade prior to presentation. She subsequently developed headache, fever, and impaired mental status. Cranial magnetic resonance imaging indicated hypertrophic pachymeningitis (HP), and 18F-fluoro-2-deoxy-2-d-glucose (FDG) positron emission tomography/computed tomography revealed significant FDG uptake in the left dura mater. Autoimmune testing revealed elevated anti-nuclear, anti-SS-A, and anti-SS-B antibody levels. Incisional biopsy of the atrophic eyeball revealed RDD with marked polyclonal plasmacytosis. The patient was diagnosed with RDD accompanied by multisystem involvement, including Sjögren's syndrome (SS), panuveitis, and HP. Treatment with methylprednisolone for several weeks resulted in significant improvement. This is the first reported case of RDD presenting with SS in combination with panuveitis and HP. Although RDD is rarely diagnosed in young patients, interdisciplinary collaboration is essential to prevent a delayed diagnosis.
Assuntos
Histiocitose Sinusal , Pan-Uveíte , Síndrome de Sjogren , Humanos , Feminino , Adulto , Histiocitose Sinusal/complicações , Histiocitose Sinusal/diagnóstico , Histiocitose Sinusal/patologia , Síndrome de Sjogren/complicações , Síndrome de Sjogren/diagnóstico , Fluordesoxiglucose F18 , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Hipertrofia , Pan-Uveíte/complicações , Pan-Uveíte/diagnóstico , Pan-Uveíte/tratamento farmacológicoRESUMO
BACKGROUND: Rosai-Dorfman Disease (RDD) is a rare self-limiting histiocytosis, more prevalent in children and young adults. It typically manifests as painless bilateral massive cervical lymphadenopathy but may also extend to extra-nodal sites, with intrathoracic RDD noted in 2% of cases. Distinguishing mediastinal RDD from thymoma on imaging poses challenges, underscoring the reliance on pathological features and immunohistochemical staining for diagnosis. CASE PRESENTATION: Patient, male, 33 years old, underwent lung a CT revealing an enlarged round soft tissue shadow in the anterior superior mediastinum, compared to a year ago. Surgical resection removed the entire mass, thymus, and part of the pericardium, confirming RDD on pathology. Genetic testing using second-generation testing technology identified a KRAS gene point mutation. CONCLUSIONS: No established treatment protocol currently exists for this disease. However, as genetic mutation research progresses, a novel therapeutic avenue is emerging: targeted therapy integrated with surgical interventions.
Assuntos
Histiocitose Sinusal , Adulto , Humanos , Masculino , Histiocitose Sinusal/diagnóstico , Histiocitose Sinusal/genética , Histiocitose Sinusal/cirurgia , Mediastino/patologia , Mutação , Proteínas Proto-Oncogênicas p21(ras)/genética , Proteínas Proto-Oncogênicas p21(ras)/uso terapêutico , Tórax/patologiaRESUMO
OBJECTIVE: The aim of this case report is to investigate an uncommon presentation of Rosai-Dorfman-Destombes (RDD) disease, and discuss possible differential diagnoses and treatment options for this pathology. RDD is a rare disorder of histiocytes that typically presents in patients as painless cervical lymphadenopathy. However, this case involves a patient with the central nervous system (CNS) type of RDD who later developed cutaneous lesions. METHOD: Several differential diagnoses were examined, including hidradenitis suppurativa, pilonidal cyst and pressure ulcers. It is important to be able to exclude these diagnoses based on the presentation, patient demographic and wound location. RESULTS: Biopsies verified the presence of RDD in the patient's suprasellar hypothalamic mass and skin lesions, confirming the patient had both CNS-RDD and cutaneous-RDD in the absence of lymphadenopathy. CONCLUSION: Recognising the unique manifestations of rare diseases such as RDD prevents delay of proper intervention and treatment.
Assuntos
Histiocitose Sinusal , Adulto , Feminino , Humanos , Diagnóstico Diferencial , Histiocitose Sinusal/diagnóstico , Histiocitose Sinusal/patologia , Úlcera por Pressão/etiologia , Úlcera por Pressão/diagnóstico , Úlcera por Pressão/patologiaRESUMO
A 29-year-old gentleman diagnosed with Rosai-Dorfman disease (RDD) on corneal biopsy, 2 years ago, presented with fluctuating left-sided numbness, intermittent slurred speech, and urinary incontinence, progressively worsening over the past three months.
Assuntos
Histiocitose Sinusal , Humanos , Histiocitose Sinusal/patologia , Histiocitose Sinusal/diagnóstico , Masculino , Adulto , Imageamento por Ressonância MagnéticaRESUMO
A radiologically diagnosed tumor in a 29-year-old woman with a fever of around 39⯰C was operated on under the suspicion of cholecystitis or a liver abscess. A solid tumor was found in the adrenal gland and resected. The frozen section findings did not reveal a clear diagnosis of entity and assignment. Histologically, the tumor was found to consist of densely clustered large histiocyte-like cells with expression of vimentin, CD68, and CD163 as well as negativity for keratin, langerin, and SMA. We diagnosed xanthogranulomatous adrenalitis and discussed the differential diagnoses (Langerhans cell histiocytosis, Rosai-Dorfman disease, malakoplakia, Erdheim-Chester disease).
Assuntos
Neoplasias das Glândulas Suprarrenais , Xantomatose , Humanos , Adulto , Feminino , Diagnóstico Diferencial , Neoplasias das Glândulas Suprarrenais/diagnóstico , Neoplasias das Glândulas Suprarrenais/patologia , Neoplasias das Glândulas Suprarrenais/cirurgia , Xantomatose/diagnóstico , Xantomatose/patologia , Xantomatose/cirurgia , Granuloma/diagnóstico , Granuloma/patologia , Granuloma/cirurgia , Doenças das Glândulas Suprarrenais/diagnóstico , Doenças das Glândulas Suprarrenais/patologia , Doença de Erdheim-Chester/diagnóstico , Doença de Erdheim-Chester/patologia , Histiocitose Sinusal/diagnóstico , Histiocitose Sinusal/patologia , Histiocitose Sinusal/cirurgiaRESUMO
BACKGROUND Sinus histiocytosis with massive lymphadenopathy (SHML), Rosai-Dorfman disease, or Rosai-Dorfman-Destombes disease (RDD), is a rare non-Langerhans cell of unknown etiology. This report is of a case of isolated SHML, or Rosai-Dorfman disease, presenting as a right atrial mass with involvement of the tricuspid valve in a 54-year-old woman. This case shows the challenges of diagnosing this condition in the heart and the challenges of treating this rare disease with the limited information on the efficacy of the treatment modalities. CASE REPORT A 54-year-old Asian woman presented to the Emergency Department with chest and right upper quadrant pain. Transthoracic echocardiogram and computed tomography angiography showed a right atrium mass at the level of the tricuspid valve, causing moderate-severe regurgitation. Partial tumor debulking with biopsies later showed pink-yellow soft tissue, with histopathology showing histiocytes demonstrating emperipolesis. The tumor was positive for CD68 and S100 and negative for CD1a, consistent with Rosai-Dorfman disease. Subsequently the patient received targeted therapy with cobimetinib, without worsening cardiac function or disease progression. CONCLUSIONS This case highlights the challenging histopathological diagnosis of SHML, or Rosai-Dorfman disease, particularly in non-lymphoid tissue, such as the heart. Obtaining tissue for diagnosis can be challenging in this organ. Treatment is challenging when the mass cannot be extracted completely, like in our case, because other forms of therapies are not well studied and warrant further investigation, such as cobimetinib, which is a MEK pathway inhibitor approved in 2022 by the US Food and Drug Administration for histiocytic neoplasms.
Assuntos
Histiocitose Sinusal , Neoplasias , Estados Unidos , Feminino , Humanos , Pessoa de Meia-Idade , Histiocitose Sinusal/diagnóstico , Valva Tricúspide/diagnóstico por imagem , BiópsiaRESUMO
INTRODUCTION: Rosai-Dorfman disease (RDD) is a rare non-Langerhans cell histiocytosis involving the central nervous system in 5% of cases. Spinal location occurs in less than 1% of extranodal RDD and can be responsible for neurological manifestations. We present a systematic review of cases of isolated spinal RDD. We also report a new case of isolated spinal RDD revealed by spinal cord compression. MATERIALS AND METHODS: The systematic review was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guideline using the MEDLINE and SCOPUS databases and included case reports and case series describing isolated RDD of the spine. RESULTS: There were 53 patients with isolated spinal RDD (including our case). The mean age was 35.85±16.48 years. Neurological deficit was the most frequent clinical presentation (89%). RDD lesions were mainly located in the thoracic spine (51%), then the cervical spine (32%). The lesion was reported to be extradural (57%), intradural extramedullary (26%), intramedullary (7%), and in the vertebral body (10%). Histological examination showed emperipolesis in 73%. Histocytes were positive for S-100 protein in 83%. Treatment was based on surgery 96%), radiotherapy, chemotherapy, and adjunctive steroid therapy were indicated in four, one, and eight cases. After a mean follow-up period of 14.84±13.00 months, recurrence of RDD was noted in 15%. CONCLUSION: Spinal RDD is a rare condition, requiring meticulous histological examination for accurate diagnosis. Complete surgical resection is the treatment of choice. Adjuvant chemotherapy and radiotherapy can also be indicated in patients demonstrating partial improvement following surgery.
Assuntos
Histiocitose Sinusal , Compressão da Medula Espinal , Humanos , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Histiocitose Sinusal/diagnóstico , Histiocitose Sinusal/cirurgia , Histiocitose Sinusal/patologia , Compressão da Medula Espinal/etiologia , Compressão da Medula Espinal/cirurgia , Vértebras Cervicais/patologia , Sistema Nervoso Central/patologiaRESUMO
BACKGROUND: Tumor-like lesions of the trachea are rare and challenging in diagnosis and management. Inflammatory myofibroblastoma, also known as Inflammatory pseudo tumors (IPTs), as well as Rosai Dorfman Disease (RDD) are inflammatory lesions that may involve the central airways with variable non-specific clinical features mimicking tumors. CASE PRESENTATION: In this study 2 cases with tumor-like lesions are presented. One case with an inflammatory pseudotumor and the other one with Rosai-Dorfman disease affecting the upper trachea. Both cases were successfully managed with tracheal resection anastomosis. CONCLUSION: Tracheal Inflammatory myofibroblastoma, and Rosai-Dorfman diseases are rare tumor like lesions that present with upper airway obstruction. Despite being benign, these lesions may have features suggestive of malignancy, requiring prompt management. Complete surgical excision by segmental resection and primary anastomosis (if feasible) is the treatment of choice with an optimum outcome.
Assuntos
Histiocitose Sinusal , Neoplasias de Tecido Muscular , Neoplasias , Humanos , Histiocitose Sinusal/diagnóstico , Traqueia/cirurgia , Traqueia/patologia , Anastomose CirúrgicaRESUMO
INTRODUCTION: Rosai-Dorfman disease (RDD) is a sinus histiocytosis with massive lymphadenopathy. This rare condition is a benign disease of unknown etiology. Bilateral orbital localization of RDD is rare. OBSERVATION: The authors report the case of a 6-year-old child who presented with bilateral orbital-palpebral masses associated with chronic cervical lymphadenopathy. There were no laboratory signs of inflammation. Serological and tuberculosis screening tests were negative. Histopathological examination of a lymph node biopsy established a diagnosis of Rosai-Dorfman disease. The patient underwent surgical excision of the orbital lesions followed by long-term corticosteroid therapy. A favorable course was observed, with no sign of recurrence after one year of follow-up. CONCLUSION: Rosai-Dorfman disease is very rare in its bilateral orbital presentation. Histopathological diagnosis remains challenging. In Africa, the presence of chronic oculo-palpebral tumor associated with or without cervical lymphadenopathy must raise the suspicion of Rosai-Dorfman disease after ruling out tuberculosis and lymphoma.
Assuntos
Histiocitose Sinusal , Linfadenopatia , Doenças Orbitárias , Tuberculose , Humanos , Criança , Histiocitose Sinusal/diagnóstico , Histiocitose Sinusal/complicações , Histiocitose Sinusal/patologia , Doenças Orbitárias/diagnóstico , Doenças Orbitárias/complicações , Biópsia , Tuberculose/complicaçõesRESUMO
Cutaneous Rosai-Dorfman Disease (CRDD), a rare form of Rosai-Dorfman Disease (RDD), lacks established treatment guidelines. In this case report, we detailed a successful case of CRDD management in a 50-year-old woman with facial lesions. Our treatment included 5-aminolevulinic acid photodynamic therapy (ALA-PDT) and low-dose oral corticosteroids. Remarkable improvement was evident after six ALA-PDT courses, and a one-year follow-up confirmed sustained remission. This case highlights the potential of combining ALA-PDT with low-dose corticosteroids as a promising therapeutic strategy for CRDD. Further research is necessary to fully elucidate its mechanisms and effectiveness.