Massive Lymphadenopathy Research Articles

Juan-Ron fever: a rare case report

Juan-Ron fever named after Jaun Rosai and Ronald Dorfman is the fever associated with Rosai Dorfman disease also known as Sinus Histiocytosis with Massive Lymphadenopathy (SHML). It is a rare disorder of unknown etiology that is characterized by abundant histiocytes in the lymph nodes throughout the body. Usually patient presents with painless lymphadenopathy. We present a case of a 45 year old male who presented to us with bilateral cervical lymphadenopathy and fever, later on diagnosed to have SHML.

Rosai dorfman syndrome with extranodal presentation

Rosai-Dorfman disease (RDD) also known as sinus histiocytosis with massive lymphadenopathy is a rare idiopathic and non-neoplastic disorder of histiocytes, resembling the sinus histiocytes of lymph nodes. The most common presentation of RDD is painless cervical lymphadenopathy in a young patient. The typical clinical features of this disease include bilateral painless lymphadenopathy, fever, and polyclonal hyperglobulinemia. However, in about 25% of cases there is no lymph node involvement and the disease presents as a mass in skin, soft-tissue, nasal cavity, eye, bone, or in other extranodal sites (extranodal type). The condition may present with extranodal involvement in 43% of cases, and cutaneous lesions are the most common form of extranodal disease. This can pose a diagnostic challenge if RDD is not considered in differential diagnoses. Isolated extranodal RDD is relatively uncommon. We report this rare case of extranodal RDD in a 32-year-old female who presented with erythematous tender subcutaneous plaques on lower extremities with left periorbital swelling. Histopathological examination demonstrated lymphophagocytosis (emperipolesis) consistent with a diagnosis of RDD.

Rosai-Dorfman Disease: A Rare Cause of Cervical Lymphadenopathy

ABSTRACT Rosai-Dorfman disease is also known as sinus histiocytosis with massive lymphadenopathy (SHML) is a rare clinico-pathological condition. It is a benign condition which causes significant cervical lymphadenopathy in children and young adults. The clinical presentation varies from isolated nodal involvement to significant extranodal manifestations. The clinical features are usually mild, but rarely life-threatening complications can occur in some individuals depending on the site of involvement. Here, we present two cases of Rosai-Dorfman disease, both diagnosed on fine needle aspiration cytology (FNAC) and histopathology and responded well to steroids. One of the patients had extranodal site involvement in the form of bilateral nasal mass which is very rare. How to cite this article Ekhar VR, Shelkar RN, Rane S, Anand A, Lanjewar K, Jain SKT. Rosai-Dorfman Disease: A Rare Cause of Cervical Lymphadenopathy. Int J Head Neck Surg 2014;5(3): 152-154.

Rosai-Dorfman Disease

ABSTRACTRosai-Dorfman disease also known as sinus histiocytosis with massive lymphadenopathy is a rare benign disorder of unknown etiology, which present most commonly as bilateral massive lymphadenopathy of neck associated with fever. These cases are frequently misdiagnosed as lymphoma, and thus it is important to distinguish Rosai-Dorfman disease from other causes of neck swelling because of different treatment modalities.We report here a case of Rosai-Dorfman disease presenting with massive right cervical lymphadenopathy.How to cite this articleJoshi S. Rosai-Dorfman Disease. Int J Otorhinolaryngol Clin 2014;6(3):121-122.

Role of Fine Needle Aspiration in the Diagnosis of the Rare Disease of Langerhans Cell Histiocytosis in a Child

Langerhan's cell histiocytosis (LCH) results from the proliferation of immunophenotypically and functionally immature, morphologically rounded Langerhan's cells along with eosinophils, macrophages, lymphocytes, and, commonly, multinucleated giant cells. Here we report a case in a 6-year-old boy of differential diagnoses including dermatopathic lymphadenitis (DL), parasitic infection, Kimura's disease, hypersensitivity reactions, cat-scratch disease, sinus histiocytosis with massive lymphadenopathy (SHML), hyperplasic lymph nodes, and lymphoma.

Rosai-dorfman disease in thoracic spine: a rare case of compression fracture.

Sinus histiocytosis with massive lymphadenopathy known as Rosai-Dorfman disease is characterized by painless bilateral cervical lymphadenopathy. Extranodal manifestations are uncommon and spinal involvement is rare. A 15-year-old man presented with intermittent midthoracic back pain only. He had no specific findings on neurologic examinations, hematologic and biochemical laboratory tests. Radiological examination of thoracic spine revealed collapse of T6 vertebrae with thoracic kyphosis and osteolytic lesion of T12 vertebra body. He underwent a removal of bone tumor, anterior reconstruction with mesh and pedicle screw fixation via posterior approach for pathologic confirmation and stabilization. Histopathologic study of the lesion revealed focal infiltration of large histiocytes showing emperipolesis. Immunochemistry stain of histiocytes was positive for CD68 and S-100 but negative for CD1a. This report presents a rare case and literature review of extranodal Rosai-dorfman disease in thoracic spine.

131I Therapy Using rhTSH Stimulation and Dosimetry in Metastatic Malignant Struma Ovarii

A 38-year-old woman with metastatic malignant struma ovarii, including massive liver metastases and retroperitoneal lymphadenopathy, underwent ovarian resection and retroperitoneal lymph nodes excision, partial hepatectomy, and radiofrequency ablation for liver metastases. She underwent thyroidectomy and received three I treatments using recombinant human thyrotropin stimulation and radioiodine dosimetry. posttherapy I imaging, anatomic images, and thyroglobulin levels showed significant diminution in the tumor burdens and remarkable decline in thyroglobulin levels. This case provided valuable information on recombinant human thyrotropin-assisted I ablation in conjunction with dosimetry in an unusual presentation of iodine-avid malignant struma ovarii with bulky metastases.

Sinonasal Rosai-Dorfman Disease

ABSTRACTAimRosai-dorfman disease (RDD) is a rare histiocytic proliferative disorder characterized by painless massive lymphadenopathy. Extranodal manifestations may occur in the head and neck area. This is a case report of a patient with sinonasal RDD and its management.Materials and methodsThis is a case report of a 36-year-old patient with sinonasal RDD. The clinical features, imaging and histological features are described. The patient underwent endoscopic surgery. Recurrence (8 months later) was managed by laserization of the nasal mass with KTP/532 laser followed by oral corticosteroid therapy.ResultsA 36-year-old lady presented with complaints of left sided nasal obstruction, nasal discharge and left facial discomfort of 6 months duration. There was history of occasional blood stained nasal discharge. Diagnostic nasal endoscopy revealed a polypoidal mass in the left nasal cavity. CT scans revealed soft tissue opacity in the left maxillary antrum, left ostiomeatal complex and extending into the left orbit. There was erosion of the posterolateral wall of the left maxilla. The patient underwent endoscopic surgery and had an uneventful postoperative recovery. Biopsy was reported as Rosai-Dorfman disease. Subsequently, 8 months later, the patient reported with a complaint of nasal obstruction and discharge. A recurrent lesion was noted in the left nasal cavity and maxillary antrum. The mass was managed by laserization followed by oral corticosteroid therapy. One year later, the patient is free from disease and has been advised regarding the necessity of periodic follow-ups.ConclusionRDD is a rare disease encountered by the otolaryngologist. The manifestation of extranodal Rosai-Dorfman disease is most commonly seen in the nasal cavity and paranasal sinuses. The clinical findings and imaging characteristics are variable and the diagnosis can be easily missed. Otolaryngologists and pathologists must be aware of the clinical presentation, imaging characteristics and histologic features of Rosai-Dorfman disease.How to cite this articleNatarajan K, Devarasetty A, Murali S, Senthilvadivu A, Sudhamaheswari, Kameswaran M. Sinonasal Rosai-Dorfman Disease. Clin Rhinol An Int J 2014;7(3):142-146.

Endobronchial ultrasound-guided transbronchial needle aspiration in the diagnosis of small cell lung cancer.

Massive lymphadenopathy and direct mediastinal invasion are well-recognized phenomena in patients with small cell lung cancer (SCLC). The aim of this study was to assess the utility of endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) in the diagnosis of SCLC. We retrospectively reviewed the records of 780 patients who underwent EBUS-TBNA at our institution from March 2004 to June 2012. Of these, 101 had a final diagnosis of SCLC. Excluding 3 patients with known SCLC who underwent EBUS-TBNA for staging purposes and including 2 patients who underwent EBUS-TBNA twice for the diagnosis of recurrence after achieving complete response by chemoradiation therapy during the study period, a total of 100 EBUS-TBNA procedures in 98 patients were analyzed. Other diagnostic tests prior to the initial EBUS-TBNA had failed to yield a diagnosis in 41 patients. The overall diagnostic yield of EBUS-TBNA for SCLC was 97% (97 of 100). Rapid on-site cytologic evaluation (ROSE) was performed at the operator's discretion in 77 procedures. ROSE did not have any impact on diagnostic yield (99% with ROSE vs. 90% without ROSE, p=0.1), but the use of ROSE was associated with fewer lesions (mean 1.1 with ROSE vs. 1.6 without ROSE, p<0.01) or aspirates (mean 2.3 with ROSE vs. 4.0 without ROSE, p<0.01). EBUS-TBNA provided a high diagnostic yield in SCLC with or without ROSE. EBUS-TBNA can be recommended for patients suspected to have SCLC, even if other diagnostic tests have failed.

Metachronous Nodal and Nasal Rosai-Dorfman Disease presenting with Chronic Renal Failure

ABSTRACT Rosai-Dorfman disease (RDD) is an uncommon non-neoplastic lymphoproliferative disorder. It usually manifests as bilateral, painless, massive cervical lymph node enlargement in children and young adults, hence the name sinus histiocytosis with massive lymphadenopathy. Extranodal involvement is observed in 25 to 40% of cases. Involvement of nasal cavity is rare and those presenting with renal failure are exceptional. We report a rare case of 16-year-old boy who was diagnosed as a case of RDD of cervical lymph node before 6 years, now presenting with nodular lesions in the nasal cavity and features of renal failure. The nasal lesion was confirmed to be RDD histologically. How to cite this article Bhat SP, Prasad HLK, Bhandary BSK, Baikunje S, Bhat V. Metachronous Nodal and Nasal Rosai Dorfman Disease presenting with Chronic Renal Failure. Clin Rhinol An Int J 2013;6(3):139-143.

Involvement of the Testis and Related Structures by Rosai-Dorfman Disease

This report describes 2 new cases of testicular involvement by Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy, and reviews the clinical and pathologic features of the other cases documented in the literature (4 cases) or included in the sinus histiocytosis with massive lymphadenopathy registry (7 cases). Our patients were 42 and 68 years of age, respectively, reflecting the usual middle-age of all the previously reported cases in this location, except for 1, which occurred in a child. Five cases were bilateral, and other sites, such as lymph nodes, kidney, skin, and adrenal gland, were involved in 8 cases. The histories were noteworthy in 2 of the cases, inasmuch as 1 patient had chronic lymphocytic leukemia, and another had a B-cell lymphoma. On gross examination, the testicular masses did not exhibit specific diagnostic features, whereas microscopic examination revealed the typical population of histiocytes, with abundant eosinophilic cytoplasm often exhibiting so-called emperipolesis. The differential diagnosis includes non-neoplastic conditions such as granulomatous orchitis, hematolymphoid disorders, a variety of metastatic tumors, and germ cell tumors.

PW03-033 - SLC29A3 mutation: a new autoinflammatory condition

Germline mutations in SLC29A3 result in a range of clinically related, recessive syndromes: H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID) syndrome, Faisalabad histiocytosis (FHC), and sinus histiocytosis with massive lymphadenopathy (SHML). Main symptoms of these diseases are hyperpigmentation with hypertrichosis, sensorineural deafness, diabetes, short stature, uveitis and “Rosai-Dorfman-like” histiocytosis.

Rosai‐dorfman disease with extranodal involvement

Rosai-Dorfman disease is a rare condition of marrow hematopoietic stem-cell origin. Patients can show extranodal involvement as well as lymphatic involvement, but only about 5% of extranodal cases involve intracranial lesions. A 53-year-old male was admitted to our hospital with bilateral cervical lymphadenopathy. Intracranial tumors and bone lesions were also detected. Cervical lymph node biopsy and intracranial tumor resection were performed, and histopathological examination revealed Rosai-Dorfman disease. The patient showed good clinical course without significant enlargement of the tumor. This study describes the case of a patient with Rosai-Dorfman disease presenting with massive cervical lymphadenopathy mimicking malignant neoplasm.

Rosai-Dorfman Disease Confined to the Breast

The Rosai-Dorfman (also known as sinus histiocytosis with massive lymphadenopathy), was described in 1969 by Rosai and Dorfman, and is considered a rare disease of unknown aetiology characterized by benign histiocytic lymphadenopathy in the neck and extranodal sites. The involvement of the breast is rare and often simulates invasive breast carcinoma in its clinical presentation and radiological findings. There are currently about 20 cases reported in the literature, and recognition of this uncommon condition, when it occurs in an atypical location such as breast, is extremely difficult. The research aims to report a case of Rosai-Dorfman breast in a woman aged 37, with ill-defined mass in the left breast. Highlighting the immunohistochemical study of biopsy material, and it diffused expression for S-100 protein in histiocytic cells of the parenchyma. J Med Cases. 2013;4(8):519-522 doi: http://dx.doi.org/10.4021/jmc1351w

Rosai–Dorfman disease with diffuse gastrointestinal involvement

Rosai-Dorfman disease, formerly known as 'sinus histiocytosis with massive lymphadenopathy', is a rare self-limiting histiocytic proliferative disorder typically presenting early in life with cervical lymphadenopathy and nonspecific systemic symptoms. Although it is usually a nodal disease, extranodal lesions may be encountered in some cases. The gastrointestinal tract is uncommonly affected in Rosai-Dorfman disease and its diagnosis depends on clinical suspicion and careful histopathological examination of biopsy samples taken from involved gastrointestinal segments. Here, we report a case of atypical Rosai-Dorfman disease with systemic symptoms and diffuse gastrointestinal involvement that led to a diagnostic and therapeutic challenge.

Isolated plasma cell granuloma of the meninges

A 77-year-old female with hypertension, presented with right partial motoric seizures. Neurological examination showed right hemiparesis. Brain MRI revealed extensive post-contrast interhemispheral dural, pachymeningeal and leptomeningeal enhancement of the left cerebral hemisphere (Fig. 1), which were initially interpreted as meningeal carcinomatosis. However, CSF analysis performed on two occasions, with normal cell count, glucose and protein levels, did not show malignant cells. Chest and abdominal CT scan and mammography were normal. Brain and meningeal biopsies were performed and histological findings (Fig. 2) were consistent with plasma cell granuloma. Following this bone marrow biopsy, skeletal X-rays survey, peripheral blood cell count, renal function, calcium and protein electrophoresis were normal. The patient was treated with corticosteroids without any neurological sequel and significant improvement of MRI findings. This case emphasizes how the diagnosis of leptomeningeal carcinomatosis remains challenging, as neither CSF cytology nor MRI is adequately sensitive for the diagnosis. Plasma cell granulomas are uncommon, benign inflammatory masses of unknown etiology [1]. They are histologically characterized by polyclonal plasma cells, large histiocytes with lymphophagocytosis and fibrosis [1]. There are only few reports of isolated CNS plasma cell granuloma in the literature [1]. Based on similar histological features, plasma cell granulomas, Rosai–Dorfman disease, and idiopathic hypertrophic pachymeningitis are now believed to form a spectrum of inflammatory or reactive conditions with, probably, the same unknown etiology [2, 3]. Rosai–Dorfman disease, or sinus histiocytosis, with massive lymphadenopathy, is a benign idiopathic histiocytic proliferative disease with pathognomonic histological and immunohistochemical characteristics. Extranodal involvement occurs in 43 % of cases [4], and by December 2008 111 cases of Rosai–Dorfman disease involving the central nervous system had been reported in the literature [5]. The main histopathological differentiation between plasma cell granuloma and Rosai–Dorfman disease is a careful appraisal of the morphological features together with the absence of emperipolesis in the S100-positive D. Kolenc S. Dotlic Department of Pathology, University Hospital Center Zagreb, Zagreb, Croatia

Orbital Rosai–Dorfman Disease in a fifty-eight years old woman

Rosai-Dorfman disease (RDD) is rare and characterized by histiocytic proliferation and massive cervical lymphadenopathy. About 40% of patients have extra-nodal involvement. Opthalmic involvement is seen in 10% of cases. A case of orbital Rosai Dorfman disease in a 58 years old woman is presented here, who was misdiagnosed as orbital inflammatory disease initially. The patient did not respond to a course of oral prednisolone. Then complete surgical excision of the mass was performed and the histopathological examination was consistent with a diagnosis of RDD.

Unsuspected Chylous Ascites in an Asymptomatic Case of Rosai Dorfman Disease

Rosai-Dorfman disease, or sinus histiocytosis, first described in 1969, is a benign systemic disorder of histiocytes of unknown etiology characterized by massive lymphadenopathy. It predominantly involves the head and neck region, and is often associated with extranodal involvement. Patient presented to pulmonology with history of sudden onset dyspnea. Clinically and radiologically, the lungs were normal. D-dimer test was noncontributory. As the patient had a family history of lymphedema, lymphoscintigraphy was sought. We report the detection of an unsuspected case of Rosai-Dorfman disease by lower limb lymphoscintigraphy.

SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis

AimsAtypical forms of diabetes may be caused by monogenic mutations in key genes controlling beta-cell development, survival and function. This report describes an insulin-dependent diabetes patient with a syndromic presentation in whom a homozygous SLC29A3 mutation was identified. MethodsSLC29A3 was selected as the candidate gene based on the patient's clinical manifestations, and all exons and flanking regions in the patient's genomic DNA were sequenced. ResultsA homozygous splice mutation (c.300+1G>C) resulting in a frameshift and truncated protein (p.N101LfsX34) was identified. The patient had insulin-dependent diabetes, congenital deafness, short stature, hyperpigmented patches on the skin, dysmorphic features, cardiomegaly, arthrogryposis, hepatosplenomegaly, anaemia with erythroblastopenia, and an inflammatory syndrome with fever and arthritis; she also presented with a fibrotic mediastinal mass. These clinical features overlapped with pigmented hypertrichosis with insulin-dependent diabetes (PHID), H syndrome, Faisalabad histiocytosis and sinus histiocytosis with massive lymphadenopathy (SHML), all of which are also caused by SLC29A3 mutations. ConclusionThis is the most severe case reported of SLC29A3 mutations with cumulative features of all these syndromes. This extreme severity coincides with the most N-terminal location of the truncation mutation, thereby affecting all alternative transcripts of the gene. This case report extends the clinical variability of homozygous SLC29A3 mutations that result in a spectrum of multisystemic manifestations.

Mutation in the SLC29A3 Gene: A New Cause of a Monogenic, Autoinflammatory Condition

Germline mutations in the SLC29A3 gene result in a range of recessive, clinically related syndromes: H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome, Faisalabad histiocytosis, and sinus histiocytosis with massive lymphadenopathy. The main symptoms of these diseases are hyperpigmentation with hypertrichosis, sensorineural deafness, diabetes, short stature, uveitis, and Rosai-Dorfman like histiocytosis. Here, we report the case of an 11-month-old boy with early-onset, recurrent episodes of unprovoked fever lasting 7 to 10 days and associated with pericardial effusion, abdominal pain, diarrhea, and inflammation. Physical examination revealed hyperpigmentation with hypertrichosis, dysmorphic features, and spleen and liver enlargement. Failure to thrive, sensorineural deafness, retarded psychomotor development, and a Rosai-Dorfman like cheek lesion developed subsequently. The febrile episodes did not respond to tumor necrosis factor α antagonists and interleukin-1. Sequencing of the SLC29A3 gene revealed a homozygous missense mutation c.1088G>A (p.Arg363Gln). These observations suggest that a newly identified mutation in the SLC29A3 gene may be associated with an autoinflammatory disorder. Genetic defects in SLC29A3 should be considered in patients with autoinflammatory manifestations, recurrent febrile attacks, and 1 or more of the symptoms found in the broad spectrum of SLC29A3-related disorders (especially hyperpigmentation with hypertrichosis).