Sinus Histiocytosis With Massive Lymphadenopathy (Rosai Dorfman Disease): Diagnostic and Treatment Modalities for this Rare Entity Revisited.

Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy is a rare non-Langerhans' cell histiocytic disease resulting from the proliferation and accumulation of sinus histiocytes within lymph nodes. Extranodal involvement frequently occurs, which increases the morbidity and mortality of the disease. There is no clear consensus with regard to the most effective diagnostic and treatment modalities. This report will focus on the diagnostic imaging, treatment, and outcomes for 3 cases of Rosai-Dorfman disease. Imaging has typically utilized computed tomography (CT)/magnetic resonance imaging to detect extranodal involvement. However, the addition of fluorodeoxyglucose positron emission tomography/CT scans has shown value in identifying lesions unidentified or ambiguous on other modalities. Fluorodeoxyglucose positron emission tomography/CT detected disease involvement in 2 instances either not reported or not felt to be significant on correlative CT imaging. Areas of involvement included the stomach/liver in case 1, and the paranasal sinus in case 3. In addition, previously utilized chemotherapy regimens have not consistently displayed regression of the disease, which lends credence to the pursuit of more successful treatment. Notably, Clofarabine has shown promise in its use against histiocytic disorders. Our study concluded that Clofarabine demonstrates the ability to decrease lesion size and should be considered as an effective chemotherapeutic treatment method.

A rare case of CD1a-negative Langerhans cell histiocytosis of the central nervous system in a child.

Langerhans cell histiocytosis is a dendritic cell disorder with a wide spectrum of severity and presentations. Histopathology typically demonstrates a proliferation of Langerhans cells and a lymphohistiocytic inflammatory infiltrate with eosinophils. The diagnosis is supported by immunohistochemistry with the cell markers S100, CD1a, CD68, and Langerin [Blood, 126, 2015, 26 and N Engl J Med, 331, 1994, 154].

Dyslipidemia, weight gain, and decreased growth velocity in a 14-year-old male.

A 14-year-old male was referred for dyslipidemia. His findings were consistent with metabolic syndrome. Although he lacked the typical physical appearance, his accelerated weight gain combined with a decreased linear growth velocity suggested Cushing syndrome. He was subsequently found to have adrenocorticotropic hormone-independent Cushing syndrome secondary to primary pigmented nodular adrenal disease without Carney Complex. After bilateral adrenalectomy, his lipid profile returned to normal. In this article, we discuss the role of glucocorticoids on lipid and lipoprotein metabolism.

A case of tuberous sclerosis complex that progressed to end-stage renal disease.

BACKGROUND: A 31-year-old woman with tuberous sclerosis complex presented with a 1 week history of subjective fever, chills, rigors, poor appetite and dizziness. INVESTIGATIONS: Physical examination, urine and blood analysis, CT of the abdomen, chest and brain, and chest X-ray. DIAGNOSIS: End-stage renal disease, septic shock and urinary tract infection secondary to huge bilateral angiomyolipomas of the kidney associated with tuberous sclerosis complex. MANAGEMENT: Antibiotic therapy, vasopressor treatment and bilateral nephrectomy, followed by hemodialysis while awaiting renal transplantation.