Rosai-Dorfmann Disease Research Articles

Thymic Rosai-Dorfmann disease: a case report

BackgroundRosai-Dorfman disease (RDD), known as sinus histiocytosis with massive lymphadenopathy, commonly involves lymph nodes in the neck or mediastinum, although extranodal involvement is observed in approximately 40% of RDD patients. RDD involving only the thymus has rarely been reported. Here, we report a case of RDD originating in the thymus. The lesion was surgically removed, and a cure was finally achieved. There was no recurrence after telephone follow-up for 3 years.Case presentationA 52-year-old male was accidentally found to have a 7 × 6 cm anterior mediastinum lump by chest computed tomography (CT). The mediastinal lesion was resected by surgery, and postoperative pathology revealed RDD originating from the thymus. Regular telephone follow-up after surgery lasted 3 years and showed that the patient remained in good condition without any relevant symptoms.ConclusionsRDD originating in the thymus cannot be characterized from CT images and is easily misdiagnosed as a traditional mediastinal tumor. This is mainly because there is so little disease in this area that physicians are not aware of it. We report this case with the hope that clinicians will have a better understanding of this disease. According to our follow-up results, surgery is an effective means of treatment.

Rosai-Dorfmann Disease: A Rare Disease Presenting as a Unilateral Neck Swelling.

Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder of unknown etiology. Usually it presents with massive painless cervical lymph node enlargement. Histologically, it shows proliferation of distinctive histiocytic cells that demonstrate emperipolesis in the background of a mixed inflammatory infiltrates. Immunohistochemically, the cells are positive for markers such as CD68 and S100. A 14-year-old boy presented with painless right sided cervical lymphadenopathy without any systemic and other ear, nose, and throat manifestations. The biopsy report of the lymph node showed infiltration of sheets of histiocytes showing emperipolesis with areas of fibrosis and hyalinisation. The sinus histiocytes were strongly positive for S-100 protein. RDD must be considered in the differential diagnosis of massive or multiple lymphadenopathies.

Peripheral Lymphadenopathy in Children: Cytomorphological Spectrum and Interesting Diagnoses.

Peripheral lymphadenopathy is a common complaint in the pediatric outpatient department. Fine needle aspiration cytology is the first investigation of choice with a high sensitivity for diagnosis but cytology may be challenging in some cases. The study was planned to study the cytomorphological spectrum and discuss a few interesting cases. 1890 paediatric subjects' up to 12 years of age with significant peripheral lymph node enlargement and an adequate cytology specimen were included in the study. Inadequate aspirates were excluded. The majority of children presented within 4-8 years of age with a male to female ratio of 1.7:1. The anterior cervical group was most commonly affected, followed by the posterior cervical, axillary and inguinal. Reactive lymphadenitis constituted the majority of the diagnoses, followed by Tuberculosis, acute suppurative, BCG-induced lymphadenitis, Kimura disease, Rosai-Dorfmann disease and Kikuchi-Fujimoto disease. Lymphomas and metastatic malignancies were less common, and mainly consisted of Hodgkin lymphoma, non-Hodgkin lymphoma, anaplastic large cell lymphoma, and Langerhans cell histiocytosis. Cytomorphological features of a few challenging and interesting cases have been discussed. Non neoplastic causes of lymphadenopathy predominate in the pediatric age group. A definitive diagnosis rests upon a complete clinical, radiological, microbiological, and cyto-histopathological correlation with the use of ancillary techniques wherever necessary.

Castleman Disease and Rosai-Dorfman Disease.

This chapter describes the main features of two different diseases, Castleman Disease (CD) and Rosai-Dorfman Disease (RDD). Castleman disease (CD) is a clinical and histopathologically heterogeneous lymphoproliferative disorder that encompasses at least three distinct entities with some common overlapping morphological features: Hyaline Vascular CD (HVCD), Unicentric Plasma Cell CD and Multicentric CD. The most important feature of HVCD is the presence of abnormal germinal centers with hyaline-vascular transformation, sometimes showing multiple germinal centers within a single reactive lymphoid follicle, this outlining HVCD as a disorder of follicular dendritic cells. Unicentric and multicentric CD are, in contrast, lymphoproliferative lesions. Proinflammatory hypercytokinemia is an essential feature of multicentric CD, distinguished by a florid clinical presentation. Rosai-Dorfmann Disease is a histiocytic proliferative disorder diagnosed by the presence of tissue infiltration by S100-positive CD1a-negative histiocytes and plasma cell aggregates, often with Russell bodies. A typical, though not specific, characteristic of the disease is emperipolesis. Initially considered to be an inflammatory/reactive condition, molecular studies suggest that at least some cases of RDD could be considered as a low-grade histiocytic neoplastic process.

Mercaptopurine Treatment in an Adult Man with Orbital and Intracranial Rosai-Dorfman Disease.

Background. Rosai-Dorfmann disease (RDD) is a rare, idiopathic non-Langerhans cell histiocytosis, affecting children and young adults, that commonly presents as painless, massive cervical lymphadenopathy with fever, weight loss, and polyclonal hypergammaglobulinemia. Cervical lymphadenopathy and extranodal involvement are the main presentations. On the contrary, ophthalmic involvement and localisation in the central nervous system are rare. Case Report. An old man was admitted to our hospital for first seizure. Brain imaging studies revealed on the left an extra-axial thickening of the dura mater with enhancement and perilesional oedema, infiltrating the sphenoorbital fissure and an isointense mass with enhancement in the orbital region with dislocation of the optic nerve. Pathological and immunohistochemistry examination of the bioptical specimen was consistent with a diagnosis of RDD. Treatment with levetiracetam and steroids was started obtaining only remission of seizures. Because of the patient refusal of the surgical debulking, therapy with mercaptopurine was started, stopping disease progression. Conclusion. So far, very few cases of extranodal RDD with multiple CNS lesions involving the orbital region have been described. Our case is significant because it is the first case in which the efficacy of mercaptopurine treatment has been documented in an adult patient with isolated ocular and intracranial RDD.

Isolated maxillary rosai dorfmannn disease masquerading as a malignancy

Rosai Dorfmann disease (RDD), first described in 1969 by Rosai and Dorfmann, is a rare, benign disorder of unknown etiology. It is a distinct clinopathological entity, typically characterized by non Langerhan histiocytic cell proliferation with massive cervical lymphadenopathy. Axillary, mediastinal and inguinal nodes are affected rarely. Fever, anemia, leucocytosis, hypergamma globulinemia, raised ESR and rarely autoimmune hemolytic anemia may coexist; mimicking differentials like Wegener’s granulomatosis, Langerhans cell histiocytosis, Tuberculosis, Hodgkin’s lymphoma, monocytic leukaemia and rhinoscleromatosis. Hence, a high clinical suspicion with immunopathological analysis confirms the diagnosis, as in this case report.

Short Note on Clinical Case Reports

Caglia et al.from Italy, present a case of 28-year-old female with cutaneous Rosai-Dorfmann disease occurring in a patient with a past medical history of autism spectrum disorders. The purely cutaneous form of the disease is extremely rare, accounting for approximately 3% of cases.

Cutaneous Rosai-Dorfmann Disease in Autistic Patient: Is there a Pathogenetic Correlation?

Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, is a benign disorder of histiocyte proliferation that usually affects the lymph nodes. Purely Cutaneous Rosai-Dorfman Disease (CRDD) is a rare extranodal variant that is strictly limited to the skin. We report a patient with of cutaneous rosai-dorfman of the abdominal wall with a past medical history of autism spectrum disorders. Autism is surely a complex disease and the most prevailing opinion is that it is a neuro-immune disorder. Both the diseases are considered strictly correlated to the immune disorders and the immunodeficiency might play an important pathogenetic role. A brief review of the literature of CRDD is also provided.

Lipid Resonance on In Vivo Proton MR Spectroscopy: Value of other Metabolites in Differential Diagnosis

In vivo proton MR spectroscopy ((1)H-MRS) can non-invasively provide biochemical information at the same examination as conventional magnetic resonance imaging (MRI). Lipid resonance (0.9-1.5 ppm) is a marker of cell membrane breakdown and tissue necrosis, but its diagnostic significance has not been well described. We retrospectively analyzed spectra to study the different pathological conditions in patients with abnormal lipid resonance. All patients with neurological diseases showing lipid resonance on (1)H-MRS (1.5T) in a tertiary hospital over two years were retrospectively analyzed. (1)H-MRS was performed using the single voxel PRESS technique (TR/TE=3000/144 ms, eight excitations). Spectra were analysed for the presence of NAA (2.0 ppm), creatine (3.0 ppm), choline (3.2 ppm), acetate (1.92 ppm), succinate (2.4 ppm), cytosolic amino acids (0.9 ppm), lactate (1.3 ppm) and lipid (0.9-1.5 ppm) peaks. Ninety-two spectra from 69 patients (38 males, 31 females; aged 9 to 89 years) were analyzed. The final diagnosis was infective (n= 33), (tuberculoma n=17, pyogenic abscess n= 8, fungal abscess n= 3, sterile abscess n= 3, tubercular abscess n= 2), neoplastic (n= 21) (glial tumors n= 9, metastasis n= 8, lymphoma n= 4), and other (n= 15) abnormalities (subacute and chronic stroke n= 6, postictal edema n= 4, multiple sclerosis n= 2, Erdhiem Chester disease n= 2, Rosai Dorfmann disease n= 1). Succinate and acetate were detected only in pyogenic abscesses (2/4 cases), but amino acids were present in both pyogenic (4/8) and fungal (3/3) abscesses. Choline was seen not only in neoplasms (18) but also in tuberculomas (11/17), but was consistently absent in the abscesses. Lactate was present in glioblastoma (7/9), pyogenic (3/8) tubercular (2/2) and fungal (3/3) abscess. Isolated lipid resonance was found in Erdheim Chester disease (2/2) of the orbit, and lipid and choline was seen in Rosai Dorfmann's disease (1/1). Brain lesions containing lipid on (1)H-MRS could be differentiated by the presence of succinate and acetate in pyogenic abscess, and amino acids in pyogenic/fungal abscesses. Choline was seen in neoplasms and in tuberculomas, but not in the abscesses. Thus, the presence of a lipid peak, when combined with features on other MR pulse sequences and available clinical data can help arrive at a specific diagnosis. (1)H-MRS should not be interpreted in isolation: it should always be correlated with conventional imaging features, and performing (1)H-MRS in isolation remains an important pitfall.

Rosai–Dorfmann disease with extensive extra nodal involvement

Rosai–Dorfmann disease is a lymphoproliferative disorder of male predominance that rarely involves the central nervous system. Scanty citations of RD involving isolated cranial and spinal compartments of central nervous system are noted in the literature, combined involvement of the two being extremely rare. Extensive involvement of both compartments in a female child is highlighted in this case report with a short review of the available literature.

Diagnostic aspects of cervical lymphadenopathy in children in the developing world: a study of 1,877 surgical specimens.

Chronic cervical lymphadenopathy is a common clinical problem frequently requiring surgical biopsy. To evaluate the characteristics of surgically excised cervical lymph nodes (LN) in children in a developing country, we studied 1,332 children less than 15 years old (1,877 surgically removed cervical LNs) over a 23-year period (1976-1999). Indications for biopsy included failure to respond to antibiotic therapy, rapid increase in size, hard, matted LNs in the preauricular, supraclavicular, and posterior triangle of the neck, and difficulty in diagnosis. Clinical and pathological characteristics investigated included age, malignancy, and granulomatous disease such as tuberculosis (tbc). The mean age was 7 years (tbc 5.8/neoplastic disease 8.5 years). Twenty LNs (1.5%) were histologically normal. There were 637 (47.8%) with nonspecific reactive lymphoid hyperplasia and 484 with chronic granulomatous changes (36.3%). Tuberculous lymphadenitis was confirmed in 332 of these (25%). In 181 (54.5%) Mycobacterium tuberculosis was cultured and a further 149 had acid-fast bacilli. Other granulomatous diseases identified included sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfmann disease) (3), syphilis (4), yaws (2), and toxoplasmosis (1). No mycobacteria other than M. tuberculosis were encountered. More than two-thirds (108) of 154 patients with neoplastic LN involvement had a lymphoma; in a further 10 lymphadenopathy was associated with leukemia. Pyogenic organisms were identified in 32, and 5 were positive for human immunodeficiency virus, 1 of whom had Kaposi's sarcoma. A second pathology was identified in 18 of the 637 cases of reactive lymphoid hyperplasia (3 with tuberculosis); in 15 (1.3%) a diagnosis of lymphoma was made from other sites (pleural fluid, etc.) within 6 months of initial biopsy. This represents a diagnostically difficult subgroup requiring further investigation. Chronic lymphadenopathy in children in developing countries has a high incidence of infective causes, including a significant incidence of M. tuberculosis. The incidence of serious pathology in more than one-half of the cervical LNs examined justifies aggressive surgical investigation.