Massive Cervical Lymphadenopathy Research Articles

Mediastinal Rosai-Dorfman Disease with KRAS mutation case report and literature review

BackgroundRosai-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 presentationPatient, 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.ConclusionsNo 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.

Rosai-dorfman disease in pregnancy with rare presentations – A case report

Rosai-Dorfman disease (RDD) also known as sinus histiocytosis with massive lymphadenopathy is a rare disorder of histiocytes characterized histologically by intracellular engulfment of lymphocytes. It may occur in any age group, but is most commonly seen in children and young adults. It is characterized by painless, bilateral massive cervical lymphadenopathy. In approximately one-third of patients it can occur in a variety of extranodal sites where it can have abundant plasma cells and sclerosis. We present a rare case of RDD in a pregnant women who presented with unilateral cervical lymph node with features of RDD showing increase in plasma cells and sclerosis as seen in extranodal sites.

Toxoplasma causing persistent massive cervical lymphadenopathy in a healthy young male

The AMJ is a peer-reviewed, triannual health journal published by Anuradhapura Clinical Society (ACS).The Journal strives to be a forum for all health professionals to publish original research and review articles in their area of expertise. The AMJ publishes articles in clinical medicine, public health and health promotion. Our priority is given to manuscripts on health related issues which affects the communities living in rural tropical communities. Established as a journal in 2006 as a publication parallel to ACS annual scientific sessions, the journal was relaunched as a proper journal in 2013. Anuradhapura Medical Journal is a member of COPE and is included on DOAJ.

Rosai-Dorfman Disease between Proliferation and Neoplasia.

Rosai-Dorfman disease (RDD) is a rare myeloproliferative disorder of histiocytes with a broad spectrum of clinical manifestations and peculiar morphologic features (accumulation of histiocytes with emperipolesis). Typically, the patient with RDD shows bilateral painless, massive cervical lymphadenopathy associated with B symptoms. Approximately 43% of patients presented with extranodal involvement. According to the 2016 revised histiocytosis classification, RDD belongs to the R group, including familial and sporadic form (classical nodal, extranodal, unclassified, or RDD associated with neoplasia or immune disease). Sporadic RDD is often self-limited. Most RDD needs only local therapies. Nevertheless, a small subpopulation of patients may be refractory to conventional therapy and die of the disease. Recent studies consider RDD a clonal neoplastic process, as approximately 1/3 of these patients harbor gene mutations involving the MAPK/ERK pathway, e.g., NRAS, KRAS, MAP2K1, and, rarely, the BRAF mutation. In addition to typical histiocytic markers (S100/fascin/CD68/CD163, etc.), recent studies show that the histiocytes in RDD also express BCL-1 and OCT2, which might be important in pathogenesis. Additionally, the heterozygous germline mutation involving the FAS gene TNFRSF6 is identified in some RDD patients with an autoimmune lymphoproliferative syndrome type Ia. SLC29A3 germline mutation is associated with familial or Faisalabad histiocytosis and H syndrome.

Destructive facial plaque with massive cervical lymphadenopathy.

Destructive facial plaque with massive cervical lymphadenopathy.

An isolated intra-cranial rosai-dorfman disease radiologically mimicking the meningioma

Rosai-Dorfman disease is an uncommon benign non-Langerhans cell histiocytosis proliferative disorder. It commonly involves the lymph nodes and is classically presented with massive cervical lymphadenopathy. It can also involve the extra-nodal sites of the body and is reported in 43% of Rosai-Dorfman disease cases. The central nervous system is rarely involved in Rosai-Dorfman disease from which intra-cranial is more common than spinal lesions. An isolated dural-based intra-cranial Rosai-Dorfman disease is extremely rare. It usually mimics meningioma on radiological imaging. It is very difficult to diagnose the Rosai-Dorfman disease on imaging and intra-operative appearances of the lesion. We present a histopathologically proven case of an isolated Rosai-Dorfman disease involving the central nervous system in 49 years old female patient which was radiologically mimicking the meningioma.

Rapida evoluzione di una istiocitosi a cellule di Langerhans cutanea isolata

The paper reports the case of a three-month-old girl presenting with maculopapular lesions all over her scalp, trunk, axilla region and groin. One month earlier she had been diagnosed with LCH through skin biopsy for persisting maculopapular rash. No other organs appeared to be involved: blood and urine tests, chest X-rays and abdominal ultrasound were normal. On physical examination, the child’s general conditions were poor and she was pale and dyspneic. Massive cervical lymphadenopathy and hepatosplenomegaly were diagnosed. Laboratory tests showed anaemia and thrombocytopenia, coagulopathy and hypoalbuminemia while chest X-rays revealed a mediastinal mass. Multisystem LCH with risk organs involvement (liver, spleen, bone marrow) was diagnosed. Despite the initial good response, the disease relapsed following first and second-line chemotherapy. Due to the evidence of B-RAF<sup>V600E</sup> mutation, targeted therapy with vemurafenib was introduced with excellent response. This case highlights the importance of surveillance in skin-limited neonatal LCH due to the risk of rapid evolution into an aggressive and refractory multisystem disease.

Indirect Detection of Burkholderia pseudomallei Infection in a US Marine After Training in Australia.

In 2012, the United States Marine Corps began annual deployments around Australia, including highly endemic areas for Burkholderia pseudomallei. B. pseudomallei infection, or melioidosis, is difficult to diagnose, and culture remains the gold standard. Accurate and timely diagnosis is essential, however, to ensuring appropriate therapy. Ten days after returning from Australia, a Marine presented to a community hospital with massive cervical lymphadenopathy, fever, and cough. Computed tomography demonstrated scattered pulmonary infiltrates with small cavitations; lymphadenopathy involving the cervical, supraclavicular, and mediastinal nodes; and splenomegaly. Sputum and blood cultures were negative. Empiric antimicrobial therapy with ceftazidime was initiated for suspected melioidosis. Retrospectively, a prototype iSTAT cartridge modified to detect B. pseudomallei capsular polysaccharide antigen was used to test a specimen of the patient's blood and was determined to be positive. Over the course of therapy, B. pseudomallei capsular antigen levels in blood declined as the patient improved. The leveraging of an existing point-of-care (POC) analyzer to create a rapid diagnostic assay for melioidosis provides a template for rapid POC diagnostics that could significantly improve the ability of clinicians to deliver timely and appropriate therapy for serious infections.

Isolated Extranodal Rosai-Dorfman Disease on 18F-FDG PET-CT Scan.

Rosai–Dorfman disease (RDD) is an uncommon proliferative histiocytic disorder. Patients usually present with painless massive cervical lymphadenopathy with fever and leukocytosis. Isolated extranodal disease is rare and more severe fibrosis, fewer histiocytosis in lesions make diagnosis more difficult as compared to nodal disease. Here, we report a case of isolated extranodal RDD on fluorodeoxyglucose (FDG) positron emission tomography-computed tomography (PET-CT) scan. FDG-avidity of RDD lesions is attributable to the intense glucose dependence of the proliferating histiocytes. PET-CT scan not only demonstrates the complete staging of the disease but also provide functional information about the disease activity to guide biopsy.

Rosai-Dorfman disease as a rare cause of cervical lymphadenopathy - case report and literature review.

Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare, benign clinical entity of unknown cause. RDD is characterised by the overproduction and accumulation of histiocytes, primarily in the lymph nodes, although it may affect every organ and system. It predominantly affects children and young adults. Typically, patients are in good general condition, with massive cervical lymphadenopathy and fever. In about 40% of cases extranodal localisation of RDD is diagnosed. In laboratory tests the most common abnormalities are increased erythrocyte sedimentation rate (ESR), leukocytosis with neutrophilia, normocytic anaemia, and hypergammaglobulinaemia. Histopathological examination remains the mainstay of diagnosis – lymph nodes have massive sinusoidal dilation, containing histiocytes positive for S-100 and CD68, and negative for CD1a. Most patients do not require treatment as spontaneous remissions are observed. We present a brief review of the literature and the case of a six-year-old boy with cervical lymphadenopathy diagnosed with RDD. So far, the patient has not required systemic treatment and has been kept under observation.

Spinal extradural Rosai Dorfman disease

Rosai Dorfman disease is a rare disorder of histiocytes, which present as massive cervical lymphadenopathy. Here we describe a case of extranodal Rosai Dorfman disease involving the spinal cord. The patient presented with subacute progressive spastic paraparesis and numbness of both lower limbs. MRI of the spine showed an extradural mass extending from C3 to L1 level causing compressive myelopathy. Biopsy of the lesion was done through a D1 D2 laminectomy and the histopathology was consistent with Rosai Dorfman disease. We treated our case with one month steroids which resulted in clinical improvement and radiological resolution of the lesion.

Sinus Histiocytosis with Massive Lymphadenopathy (Rosai-Dorfman Disease): A Case Report with Review of Literature

Sinus Histiocytosis with Massive lymphadenopathy, also commonly known as Rosai-Dorfman Disease is a rare non neoplastic histiocytic disorder first described by Rosai and Dorfman, seen predominantly in childhood and young adults. It is characterized by fever, painless massive cervical lymphadenopathy and elevated ESR levels. RDD is often misdiagnosed as lymphoma, tuberculosis or metastatic malignancy, so it is important to distinguish it from these conditions as the modes of treatment are different. Here we report a case of 18 years old male presenting with massive lymphadenopathy. Morphological findings demonstrated Emperipolesis consistent with a diagnosis of Rosai-Dorfman disease. Clinical and cytological aspects of the

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.

Isolated Intracranial Rosai-Dorfman Disease.

Background. Rosai-Dorfman disease (RDD) is a benign histiocytic proliferative disorder of unknown etiology. This rare condition commonly causes massive cervical lymphadenopathy. Intracranial RDD without any nodal involvement is extremely rare. Case Report. A young Bangladeshi male complained of bilateral complete blindness with left sided deafness for about three years. There was no lymphadenopathy. MRI and CT scan of brain suggested an inflammatory/neoplastic (?meningioma) lesion located at left parasellar region which extended frontally to encircle both optic nerves and also to left prepontine area. Histopathologically the lesion was diagnosed as RDD. The patient was treated with steroid and significant clinical improvement observed. Conclusion. The prognosis of intracranial RDD is not poor. It can be treated with surgery with or without corticosteroids, chemotherapy, and so forth. But as the condition is extremely rare and often misdiagnosed, the clinician, radiologist, and histopathologist should have a suspicion in their mind about the possibility of RDD.

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.

Soft Tissue Rosai-Dorfman Disease in a 77-Year-Old Female

Rosai-Dorfman disease is a histiocytic disorder that is most common in children and young adults of African descent which typically presents as painless massive cervical lymphadenopathy. The purpose of this article is to report a case of Rosai-Dorfman disease in a 77-year-old woman who presented with a large subcutaneous mass in her lower left abdomen. Microscopic examination revealed diagnostic features of Rosa-Dorfman disease. This uncommon disorder may involve lymph nodes and other organs, but rarely involves and presents as a soft tissue tumor. Clinical observation is the usual treatment, and correct diagnosis is important to avoid unnecessary therapy.

Rosai-Dorfman disease

Rosai-Dorfman disease (RDD) also known as sinus histiocytosis with massive lymphadenopathy is an uncommon benign condition of histiocytes of unknown etiology, most often misdiagnosed as lymphoma. Patients have bilateral cervical lymphadenopathy with the variable clinical presentation. We report a 37-year-old male presenting with massive painless bilateral cervical lymphadenopathy, turned out to be RDD after several misdiagnoses.

Sinus Histiocytosis with Massive Lymphadenopathy – Its Rare Immunological Complication

A 3-year-old boy presented with irregular fever, multiple painless swelling over neck, axilla and inguinal region for one and half year. The child developed progressive pallor for one to two months. Examination revealed generalized lymphadenopathy including massive cervical lymphadenopathy, hepatosplenomegaly, severe anaemia and absence of jaundice. Here, a case of sinus histiocytosis with massive lymphadenopathy complicated by a rare immune dysregulation in the form of autoimmune haemolytic anaemia is reported.

Radiological and clinicopathological analysis of intraspinal primary Rosai-Dorfman disease

Background Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy (SHML), is a non-neoplastic histiocytic proliferation predominantly affecting lymph nodes, and usually presents with massive painless cervical lymphadenopathy accompanied by fever and weight loss. Extranodal involvement occurs in over 40% of patients; however, isolated extranodal disease without lymph node involvement is unusual. Although extranodal involvement has been reported in diverse sites, central nervous system manifestation, particularly in spinal cord is distinctly rare. It is a diagnostic challenge for radiologists and histopathologists to differentiate RDD from other spinal lesions because of its similarities in radiological and histological findings. Herein we describe a case of unusual isolated RDD in spinal cord. The radiology and clinicopathology of this lesion, as well as its differential diagnosis are discussed. Methods The clinical manifestation of a patient with intraspinal primary RDD occurring C 3-6 level was presented retrospectively. Gross resected mass was routinely paraffin-embedded and stained with hematoxylin and eosin. Dako EnVision immunohistochemical staining system was used to detect the tumor antigen expressions, including S-100 protein (S-100), CD1a and CD68 (KP-1). Results A 25-year-old female patient presented with 3-month history of numbness and weakness in both upper limbs associated with an increasing neck back pain. There was no fever and lymphadenopathy found in the patient. MRI of the whole spine revealed a subdural mass extending from C 3 to C 6 level of cervical spinal cord with homogeneous enhancement after contrast administration. Laminectomy and midline opening of the dura were performed. The subdural lesion appeared to have no capsule and attach the dura mater. The lesion was removed totally. Under the microscopic examination, dense fibrosis and intense chronic inflammation with focal neutrophilic infiltrates were noted. The clusters of large histiocytes with eosinophilic, finely granular cytoplasm and multinucleate giant cells were also observed in the lesion. Emperipolesis with intact lymphocytes within the cytoplasm of the large histiocytes were present. Mitotic activity and necrotic area were not observed. Special stains for organisms were negative. By immunohistochemical analysis, the characteristic histiocytes were positive for S-100 and CD68 and negative for CD1a. Based on clinical presentations and histological findings, a final histological diagnosis of primary RDD in spinal cord was made according to the criteria of WHO classification. The patient did not receive chemotherapy and radiotherapy, and attended follow-up for 12 months, without any neurological deficit or signs of recurrence. Conclusions Isolated intraspinal RDD is rare. The definite diagnosis of this lesion should be made under the microscopical examination because the preoperative radiological appearance of the lesion does not differ from other lesions occurring in spinal cord, such as inflammatory pseudotumor, meningioma and lymphoma. Although good prognosis is obtained from gross total resection in most of reported patients with this lesion, recurrence could be found in individual cases, and chemotherapy and (or) radiotherapy had been applied for a few cases with multiple organs involvement to control the progression of lesion. Due to the rarity of its site, the strictly differential diagnosis should be made when the isolated RDD is encountered in spinal cord. doi: 10.3969/j.issn.1672-6731.2014.04.011

Hyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype

Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM# 260920) is a rare recessively-inherited autoinflammatory condition caused by mutations in the MVK gene, which encodes for mevalonate kinase, an essential enzyme in the isoprenoid pathway. HIDS is clinically characterized by recurrent episodes of fever and inflammation. Here we report on the case of a 2 year-old Portuguese boy with recurrent episodes of fever, malaise, massive cervical lymphadenopathy and hepatosplenomegaly since the age of 12 months. Rash, arthralgia, abdominal pain and diarrhea were also seen occasionally. During attacks a vigorous acute-phase response was detected, including elevated erythrocyte sedimentation rate, C-reactive protein, serum amyloid A and leukocytosis. Clinical and laboratory improvement was seen between attacks. Despite normal serum IgD level, HIDS was clinically suspected. Mutational MVK analysis revealed the homozygous genotype with the novel p.Arg277Gly (p.R277G) mutation, while the healthy non-consanguineous parents were heterozygous. Short nonsteroidal anti-inflammatory drugs and corticosteroid courses were given during attacks with poor benefits, whereas anakinra showed positive responses only at high doses. The p.R277G mutation here described is a novel missense MVK mutation, and it has been detected in this case with a severe HIDS phenotype. Further studies are needed to evaluate a co-relation genotype, enzyme activity and phenotype, and to define the best therapeutic strategies.