ABSTRACT
Intracranial Rosai-Dorfman Destombes (RDD) disease is a rare entity. Lesions can lead to cranial nerve palsies and visual loss, especially in suprasellar location. Resection is considered to be definitive treatment; however, complete excision is difficult to achieve in view of the close proximity of critical structures. Radiotherapy (RT) is sometimes used for refractory or progressive disease for local tumor control and amelioration of symptoms. We report two patients with suprasellar RDD's with progressive symptoms treated with conformal RT after subtotal excision. These patients were treated with high precision conformal techniques to a dose of 45 Gy with significant and durable improvement in vision.
Subject(s)
Brain Diseases/radiotherapy , Histiocytosis, Sinus/radiotherapy , Radiotherapy, Conformal , Adult , Brain Diseases/diagnostic imaging , Brain Diseases/pathology , Brain Diseases/physiopathology , Female , Histiocytosis, Sinus/diagnostic imaging , Histiocytosis, Sinus/pathology , Histiocytosis, Sinus/physiopathology , Humans , Male , Neurosurgical Procedures , Vision Disorders/physiopathologyABSTRACT
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.
Subject(s)
Histiocytosis, Sinus/metabolism , Histiocytosis, Sinus/pathology , Immunophenotyping/methods , Skin Diseases/pathology , Administration, Topical , Adult , Aged , Antigens, CD/metabolism , Antigens, CD1/metabolism , Antigens, Differentiation, Myelomonocytic/metabolism , Biopsy , Diagnosis, Differential , Emperipolesis , Female , Histiocytes/pathology , Histiocytosis, Sinus/physiopathology , Histiocytosis, Sinus/therapy , Humans , Injections, Intralesional , Lymphadenopathy/pathology , Male , Middle Aged , S100 Proteins/metabolism , Steroids/administration & dosage , Steroids/therapeutic useABSTRACT
BACKGROUND: Destombes-Rosai-Dorfman disease (RDD) is a rare multisystemic histiocytosis. Pulmonary involvement during RDD has been poorly described. The goal of this study was to examine the clinical presentations, radiological features, and outcomes of 15 patients with RDD and lung involvement. METHODS: The cases of RDD with lung involvement were extracted from the French National Histiocytosis registry. Efficacy of the MEK inhibitor cobimetinib in treating lung disease was evaluated with an 18fluorodeoxyglucose PET scanner and chest CT scans. RESULTS: Fifteen patients (six women; median age, 40 years at RDD diagnosis) were included. All patients had evidence of systemic disease with extrapulmonary localizations of the disease (lymphadenopathy [n = 12], skin [n = 9], bones [n = 6], retroperitoneal involvement [n = 3], sinuses [n = 3], parotid gland [n = 2], submandibular gland [n = 1], and breast [n = 1]). Presenting symptoms were dominated by dyspnea and dry cough in seven patients. Restrictive physiology was observed in two of five patients. BAL showed lymphocytosis in one of five cases. Eight patients received corticosteroids, all but one with variable immunosuppressive or immunomodulatory therapies. Two patients received cobimetinib for severe lung disease, with dramatic pulmonary metabolic and tumoral responses. Two patients died during follow-up: one of hemoptysis, and the other of an unrelated cerebral tumor. CONCLUSIONS: Pulmonary involvement in RDD is rare, proteiform, and sometimes severe. The MEK inhibitor cobimetinib can lead to dramatic responses.
Subject(s)
Histiocytosis, Sinus/physiopathology , Lung Diseases/physiopathology , Lung/diagnostic imaging , Adolescent , Adrenal Cortex Hormones/therapeutic use , Adult , Aged , Aged, 80 and over , Azetidines/therapeutic use , Bronchoalveolar Lavage Fluid/cytology , Cough/etiology , Dyspnea/etiology , Female , Fluorodeoxyglucose F18 , France , Histiocytosis, Sinus/complications , Histiocytosis, Sinus/diagnostic imaging , Histiocytosis, Sinus/drug therapy , Humans , Immunosuppressive Agents/therapeutic use , Lung Diseases/diagnostic imaging , Lung Diseases/drug therapy , Lung Diseases/etiology , Lymphocytosis/etiology , Male , Middle Aged , Piperidines/therapeutic use , Positron Emission Tomography Computed Tomography , Protein Kinase Inhibitors/therapeutic use , Radiopharmaceuticals , Registries , Retrospective Studies , Young AdultSubject(s)
Blastomycosis/diagnosis , Histiocytosis, Non-Langerhans-Cell/diagnosis , Histiocytosis, Sinus , Skin/pathology , Xanthogranuloma, Juvenile/diagnosis , Biopsy/methods , Diagnosis, Differential , Histiocytosis, Sinus/diagnosis , Histiocytosis, Sinus/metabolism , Histiocytosis, Sinus/pathology , Histiocytosis, Sinus/physiopathology , Humans , Immunohistochemistry , Male , Middle Aged , S100 Proteins/metabolismABSTRACT
No disponible
Subject(s)
Humans , Female , Middle Aged , Histiocytosis, Sinus/diagnosis , Histiocytosis, Sinus/drug therapy , Thyroid Diseases/complications , Prednisone/therapeutic use , Histiocytosis, Sinus/classification , Histiocytosis, Sinus/physiopathology , Gait Disorders, Neurologic/complications , Confusion/complications , Electroencephalography/methods , Hashimoto Disease/complications , Hashimoto Disease/diagnosis , Macrophages/cytologyABSTRACT
BACKGROUND: Rosai-Dorfman disease is a form of histiocytosis affecting the systemic lymph nodes. Intracranial Rosai-Dorfman disease is rare and presents with extra-parenchymal or intraparenchymal proliferative mass lesions. Cranial neuropathy has not been reported in Rosai-Dorfman disease except when caused by mass effect by an adjacent lesion. PATIENT DESCRIPTION: We describe a girl with Rosai-Dorfman disease who presented with peripheral and multiple cranial neuropathies. Detailed clinical, immunologic, neurophysiology, imaging, and genetic studies were performed. She had a prolonged course but recovered fully after immune therapies. She had increased titers of striated muscle and smooth muscle antibodies. Imaging studies revealed contrast enhancement of cranial nerves and striated muscles. Demyelination was evident in the nerve twigs from muscle biopsy. Exome sequencing did not reveal a genetic mutation. CONCLUSIONS: Most patients with Rosai-Dorfman disease have a benign course, but severe neurological dysfunction due to bulbar involvement and cranial and peripheral neuropathies may occur. Treatment with immunoglobulin and steroids may be of benefit.
Subject(s)
Histiocytosis, Sinus/diagnostic imaging , Histiocytosis, Sinus/pathology , Brain/diagnostic imaging , Child , Diagnosis, Differential , Female , Histiocytosis, Sinus/drug therapy , Histiocytosis, Sinus/physiopathology , Humans , Muscles/pathology , Spinal Cord/diagnostic imagingABSTRACT
Few studies have used fine-needle aspiration cytology for the purpose of isolated skeletal Rosai-Dorfman diseases (RDDs) diagnosis.Herein, we described an extremely rare case of a 56-year-old woman who presented to our hospital with an insidious onset of pain in the right proximal tibia.The provisional cytologic diagnosis of RDDs was confirmed by a computer tomography-guided core needle biopsy of the lesion. Subsequently, curettage and autogenous iliac crest bone graft were performed successfully. At the 4th year of follow-up her clinical symptoms disappeared, and there was no clinical evidence of lesion recurrence.Our case highlighted the role of fine-needle aspiration cytology with immunohistochemical studies in the diagnosis of RDDs and the characteristic features of isolated skeletal RDDs in an unusual location, the knowledge of which would help avoid missed or delayed diagnosis in the future.
Subject(s)
Bone Transplantation/methods , Curettage/methods , Histiocytosis, Sinus , Tibia , Biopsy, Fine-Needle/methods , Diagnosis, Differential , Female , Histiocytosis, Sinus/complications , Histiocytosis, Sinus/diagnosis , Histiocytosis, Sinus/pathology , Histiocytosis, Sinus/physiopathology , Humans , Image-Guided Biopsy/methods , Immunohistochemistry , Middle Aged , Pain/etiology , Tibia/diagnostic imaging , Tibia/pathology , Tomography, X-Ray Computed/methods , Treatment OutcomeABSTRACT
Sinus histiocytosis with massive lymphadenopathy, or Rosai-Dorfman disease (RDD), is commonly characterized by painless cervical lymphadenopathy. Exclusively cutaneous Rosai-Dorfman disease is rare. In the absence of massive lymphadenopathy, the nonspecific skin lesions may complicate the diagnosis. To our knowledge, the case reported herein is the youngest case of extranodal cutaneous RDD.
Subject(s)
Histiocytosis, Sinus/diagnosis , Skin Diseases/diagnosis , Antigens, CD/metabolism , Antigens, Differentiation, Myelomonocytic/metabolism , Biomarkers/metabolism , Child, Preschool , Diagnosis, Differential , Histiocytes/metabolism , Histiocytes/pathology , Histiocytosis, Sinus/metabolism , Histiocytosis, Sinus/physiopathology , Humans , Male , S100 Proteins/metabolism , Skin Diseases/metabolism , Skin Diseases/physiopathologySubject(s)
Glucocorticoids/therapeutic use , Histiocytosis, Sinus/drug therapy , Orbital Diseases/drug therapy , Triamcinolone Acetonide/therapeutic use , Histiocytosis, Sinus/diagnostic imaging , Histiocytosis, Sinus/physiopathology , Humans , Injections, Intralesional , Male , Middle Aged , Orbital Diseases/diagnostic imaging , Orbital Diseases/physiopathology , Tomography, X-Ray ComputedABSTRACT
BACKGROUND: Rosai-Dorfman disease (RDD), otherwise known as sinus histiocytosis with massive lymphadenopathy (SHML), usually affects young adults and commonly presents with massive painless cervical lymphadenopathy. Extranodal disease is present in a third of patients, and it is recognised that this can involve the central nervous system. Intracranial RDD is rare in adults and fewer than 10 paediatric cases have been reported. CASE: A 10-year-old boy with isolated intracranial RDD presents with a painless forehead mass. The management is discussed and the literature reviewed. CONCLUSION: This case of isolated intracranial RDD highlights the importance of considering RDD in the differential of paediatric intracranial mass lesions and outlines the diagnostic and treatment challenges faced when managing this rare condition.
Subject(s)
Histiocytosis, Sinus , Child , Histiocytosis, Sinus/diagnosis , Histiocytosis, Sinus/physiopathology , Humans , Magnetic Resonance Imaging , Male , Tomography Scanners, X-Ray ComputedABSTRACT
Sinus histiocytosis with massive lymphadenopathy (SHML), Rosai-Dorfman Disease, is a rare histiocytic syndrome first described by Rosai and Dorfman, most frequently seen in children and young adults.The disease is more common in males and in individuals of African descent but rare in Asians. It is mainly characterized by painless bilateral cervical lymph node enlargement and is often associated with fever and leucocytosis. This case is being reported for its rarity in presentation in an elderly female with both generalized nodal as well as extranodal manifestations. Without the awareness about RDD, the diagnosis of RDD is unexpected especially in South East Asian Countries where certain lymphadenopathies such as tuberculosis, metastatic malignancies and lymphomas are common.
Subject(s)
Histiocytosis, Sinus , Lymph Nodes , Lymphadenopathy , Prednisolone/administration & dosage , Biopsy, Needle/methods , Diagnosis, Differential , Female , Glucocorticoids/administration & dosage , Histiocytosis, Sinus/diagnosis , Histiocytosis, Sinus/drug therapy , Histiocytosis, Sinus/pathology , Histiocytosis, Sinus/physiopathology , Humans , Immunohistochemistry , Lymph Nodes/diagnostic imaging , Lymph Nodes/pathology , Lymphadenopathy/pathology , Lymphadenopathy/physiopathology , Mediastinum , Middle Aged , Neck , Tomography, X-Ray Computed/methods , Treatment OutcomeABSTRACT
The paper describes a case of diffuse large B-cell lymphoma detected in a patient 13 months after sinus histiocytosis with massive lymphadenopathy (SHML) or Rosai-Dorfman disease (RDD) being diagnosed together with active hepatitis B virus infection. Analysis of their observations of patients with sinus histiocytosis and the data available in the literature allowed the authors to identify a few tens of cases with SHML associated with lymphomas. This case and previously described ones in the literature on the association of RDD and lymphomas may suggest with a high degree of probability that patients diagnosed as having RDD in evident lymphadenopathy and the non-typical clinical course of RDD may develop blood cancer.
Subject(s)
Hepatitis B, Chronic/diagnosis , Histiocytosis, Sinus/physiopathology , Lymphoma, Large B-Cell, Diffuse/pathology , Adult , Hepatitis B, Chronic/virology , Histiocytosis, Sinus/complications , Histiocytosis, Sinus/diagnosis , Humans , Lymphoma, Large B-Cell, Diffuse/diagnosis , MaleABSTRACT
Rosai-Dorfman disease has been described as massive painless cervical lymphadenopathy with a benign clinical course and unclear etiology. Isolated extranodal involvement has been rarely described. We present a rare case of isolated intracranial Rosai-Dorfman disease that was diagnosed and treated at our institution. Our diagnostic and clinical challenges are presented with a review of the literature.
Subject(s)
Brain Neoplasms/diagnosis , Histiocytosis, Sinus/diagnosis , Aged , Brain Neoplasms/pathology , Brain Neoplasms/physiopathology , Histiocytosis, Sinus/pathology , Histiocytosis, Sinus/physiopathology , Humans , MaleABSTRACT
A 33-year-old female presented with an isolated well-enhanced intracerebral lesion with peritumoral edema in the frontal lobe, which was tentatively diagnosed preoperatively as either a primary intraparenchymal neoplasm or metastatic brain tumor. However, histological examinations yielded a diagnosis of Rosai-Dorfman disease. Isolated intracranial Rosai-Dorfman disease is very rare, and without dural attachment, as in our case, is exceptional. The present case mimicked intraparenchymal neoplasm. Rosai-Dorfman disease should be considered in the differential diagnosis of isolated intraparenchymal tumors. Magnetic resonance imaging including diffusion-weighted imaging may be helpful in the diagnosis of isolated intracranial Rosai-Dorfman disease.
Subject(s)
Cerebrum/pathology , Histiocytosis, Sinus/complications , Histiocytosis, Sinus/pathology , Adult , Cerebrum/physiopathology , Cerebrum/surgery , Female , Histiocytosis, Sinus/physiopathology , Humans , Inflammation/etiology , Inflammation/pathology , Inflammation/physiopathology , Magnetic Resonance Imaging/methods , Neurosurgical Procedures/methodsABSTRACT
PET/CT showed accurate localization of increased glucose metabolism.
Subject(s)
Fluorodeoxyglucose F18 , Histiocytosis, Sinus/diagnostic imaging , Positron-Emission Tomography , Skin Diseases/diagnostic imaging , Tomography, X-Ray Computed , Adult , Histiocytosis, Sinus/pathology , Histiocytosis, Sinus/physiopathology , Humans , Male , Skin Diseases/pathology , Skin Diseases/physiopathologyABSTRACT
Sinus histiocytosis with massive lymphadenopathy, also known as Rosai-Dorfman disease, is a rare histiocytic proliferative disorder of unknown aetiology. The classic presentation of Rosai-Dorfman disease is massive, bilateral, painless cervical lymphadenopathy. Extranodal disease is also common, often with a particular predilection for the head and neck regions. We report a rare case of Rosai-Dorfman disease with nodal and multiple extranodal manifestations in a 13-year-old girl. The patient had cervical and mediastinal lymphadenopathy, multiple soft tissue swellings of the scalp, bilateral proptosis and goitre due to thyroid gland involvement. She responded to steroids, with remission of the swellings and symptoms. This case is being reported for its rarity, multiple extranodal manifestations and thyroid gland involvement. Thyroid gland involvement in Rosai-Dorfman disease has rarely been reported in the literature.