Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019625 (Rosai-Dorfman disease)
 763 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rosai-Dorfman disease (RDD) is a rare histiocytic proliferative disorder with massive lymphadenopathy. We here describe RDD of a neonate who presented with paleness and hepatosplenomegaly but not lymph-node swelling. Routine laboratory studies showed anemia, thrombocytopenia, and an elevated value of gamma-glutamyl transpeptidase. Histological examination of the liver revealed a proliferation of histiocytes with abundant eosinophilic cytoplasm, which were positive for S-100 protein and CD68 but not CD1a and did not reveal Birbeck granules. Radiological studies showed hepatosplenomegaly and a narrowing of the hepatic vein, which might have contributed to hypersplenism resulting in anemia and thrombocytopenia. This case is thought to be congenital RDD without lymphadenopathy.
 ...
PMID:Congenital Rosai-Dorfman disease without lymphadenopathy. 1469 91

We present a case of autoimmune lymphoproliferative syndrome (ALPS) caused by a previously undescribed minimal deletion in the death domain of the FAS gene. ALPS is an uncommon disease associated with an impaired Fas-mediated apoptosis. The patient presented with a history of splenomegaly since 4 months of age, associated with cervical lymphadenopathy, which improved with oral corticosteroid treatment. Relevant laboratory findings were the presence of anemia, thrombocytopenia, and positive direct and indirect Coombs tests. He was not an offspring of consanguineous parents. Two cervical lymph node biopsies were performed, at 4 years and at 6 years of age. In both lymph nodes, there was marked paracortical expansion by lymphocytes in variable stages of immunoblastic transformation and a very high cell proliferating index. Some clear cells were also present, raising the suspicion of malignant lymphoma. In one of the lymph nodes, there was also a focus rich in large histiocytes with round nuclei and emperipolesis, consistent with focal Rosai-Dorfman disease. Immunostaining showed numerous CD3+ cells, many of which were double-negative (CD4- CD8-) and expressed CD57, especially around the follicles. Molecular studies of the lymph node biopsy showed a point deletion (4-base pair deletion) in exon 9 of the FAS gene (930del TGCT), which results in 3 missense amino acids.
 ...
PMID:Autoimmune lymphoproliferative syndrome in a patient with a new minimal deletion in the death domain of the FAS gene. 1807 Jun 32

Rosai-Dorfman disease (RDD) is a rare entity of non-Langerhans cell histiocytoses (non-LCH) which usually presents with bilateral painless cervical lymphadenopathy. We describe a neonate with RDD who presented with anemia, thrombocytopenia and hepatomegaly. He recovered spontaneously with conservative management. This represents an atypical presentation of RDD. Conservative management with close monitoring can be adopted for some with systemic involvement.
 ...
PMID:Congenital Rosai-Dorfman disease presenting with anemia, thrombocytopenia, and hepatomegaly. 1906 Dec 11

ALK-positive histiocytosis is a recently described rare histiocytic proliferative disorder of early infancy. When infants present with anemia, thrombocytopenia, and hepatosplenomegaly, this entity should be included in the differential diagnosis along with hemophagocytic lymphohistiocytosis, metabolic/storage diseases, hematopoietic malignancies, and autoimmune thrombocytopenia. We report 2 new cases of ALK-positive histiocytosis, one with kidney involvement and the other with extensive bone marrow involvement in addition to an overt liver disease. Renal involvement by ALK-positive histiocytosis has not been reported. The infiltrating histiocytes in this case showed Rosai-Dorfman disease-like morphology including emperipolesis. The histiocytes in the second case with extensive bone marrow involvement had foamy cytoplasm initially suggesting storage disease. Our 2 cases highlight previously unrecognized diversity of ALK-positive histiocytosis in clinical manifestation, organ involvement, and cytomorphologic features and further elucidate the diagnostic challenges of this rare entity.
 ...
PMID:Expanding the Phenotype of ALK-positive Histiocytosis: A Report of 2 Cases. 2922 19

BACKGROUND The educational objective of this study was to describe 2 case reports in which patients were found to have an autoimmune disease concomitantly with a rare, benign histiocytic disorder known as Rosai-Dorfman disease (RDD). It is unclear if there is an underlying association between autoimmune disease and RDD. Lymphadenopathy, although most frequently seen bilaterally in the cervical region in RDD, may be present anywhere. A biopsy with histologic confirmation is required to not only evaluate for malignancy in these cases, but also necessary to diagnose RDD. CASE REPORT We describe 2 cases in which RDD was found incidentally in 2 patients who concomitantly had known autoimmune diseases. The first patient's history included Factor II deficiency, antiphospholipid syndrome, and autoimmune hemolytic anemia; whereas the second patient had a positive antinuclear antibody test, elevated rheumatoid factor, positive lupus anticoagulant, and positive beta-2 glycoprotein 1 antibodies, as well as positive anticardiolipin antibody panel, immune mediated thrombocytopenia, and pernicious anemia. Lymphadenopathy and an enlarged mass were seen in these cases respectively, which were histologically proven to be RDD. Steroid therapy was the mainstay of treatment. CONCLUSIONS Autoimmune diseases are relatively common in the general population and it appears that RDD coexists more often than suspected. When lymphadenopathy or a mass is seen, especially in those with other autoimmune diseases, RDD should remain within the differential diagnosis. Further research is required to determine characteristics and optimal management of RDD. We have observed in the cases presented, that if the autoimmune disease is well controlled, RDD can be an indolent disease.
 ...
PMID:Autoimmune Diseases and Rosai-Dorfman Disease Coexist More Commonly than Expected: Two Case Reports. 3114 30