Rosai-Dorfman-Destombes (RDD) disease presenting as palindromic rheumatism

Jahromi, Amin Haghighat; Goodman, Aaron M.; Hoh, Carl K.

doi:10.1186/s12880-021-00596-2

Cited by 5 publications

(7 citation statements)

References 13 publications

(12 reference statements)

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“…Monarthritis has been described before, with synovial infiltration of the affected joint by histiocytes 16. Oligoarthritis has been described in the context of RDD 17. To our knowledge, this is the first report of a patient with ECD presenting with arthritis of more than one joint.…”

Section: Discussionmentioning

confidence: 71%

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Erdheim-Chester disease with Rosai-Dorfman-like lesions: treatment with methotrexate, anakinra and upadacitinib

et al. 2023

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Erdheim-Chester disease (ECD) is a non-Langerhans cell histiocytosis characterised by clonal expansion of histiocytes in various organs. These induce an inflammatory environment, which leads to damage of the affected areas. Recently, a new disease entity was proposed encompassing key features of ECD but also of Rosai-Dorfman-Destombes disease, another histiocytosis. Mitogen-activated protein kinase kinase 1 (MAP2K1)mutations seem to present a specific genetic lesion for this subtype.Here, we describe a case of this new disease entity with clinical, radiological and genetic findings compatible with ECD but histological findings compatible with Rosai-Dorfman-Destombes disease. In particular, there were intraabdominal and retroperitoneal lesions, which tested positive for a (c.167A>C; p.Q56P) mutation of the MAP2K1 gene. On histological examination, S100-positive, giant histiocytes with focal emperipolesis of haematological cells in addition to infiltration by lymphocytes and granulocytes were seen.As described for this rare variant of ECD, there was also bilateral testicular infiltration. We also describe a manifestation of oligoarthritis in this patient with ECD.The patient was treated with methotrexate and prednisolone. While radiological response to this regime was excellent, arthritis persisted. We added anakinra, which induced a response of the arthritis for more than a year. Due to treatment failure therapy was switched to upadacitinib, which induced a remission of the arthritis as well.This case adds a rare phenotype to an already rare presentation of ECD. The patient responded to immunosuppressive therapy.

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Section: Discussionmentioning

confidence: 71%

“… 16 Oligoarthritis has been described in the context of RDD. 17 To our knowledge, this is the first report of a patient with ECD presenting with arthritis of more than one joint.…”

Section: Discussionmentioning

confidence: 78%

Erdheim-Chester disease with Rosai-Dorfman-like lesions: treatment with methotrexate, anakinra and upadacitinib

et al. 2023

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“…[1][2][3] Rosai-Dorfman disease usually shows increased FDG uptake. [4][5][6][7][8][9][10][11][12][13][14] Therefore, FDG PET/CT is useful for defining disease extent and guiding biopsy. 4 FDG PET/CT is also valuable for evaluating response to therapy of the disease.…”

Section: Figurementioning

confidence: 99%

“…Bone involvement is uncommon, with the skull, tibia, and femur being the most commonly involved sites 1–3 . Rosai-Dorfman disease usually shows increased FDG uptake 4–14 . Therefore, FDG PET/CT is useful for defining disease extent and guiding biopsy 4 .…”

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confidence: 99%

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FDG PET/CT in Isolated Thoracic Vertebral Rosai-Dorfman Disease

Zhao

Bai²,

Dong

et al. 2021

Clin Nucl Med

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Manifestations, Diagnosis and Treatment of Osseous Rosai-Dorfman Disease: A Systematic Review

Agarwal,

Abozeed

2023

Preprint

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BACKGROUND We hypothesize that lymphadenopathy and extraosseous manifestation affect the management protocol and our aim is to aid in development of standardized diagnosis and treatment protocols. METHODS PubMed and Google Scholar were searched from January 2012 through December 2022 using keywords Rosai-Dorfman, Rosai and Dorfman, and bone. Out of 98 researches, meta-analysis of 51 full-text studies involving 53 individuals with osseous RDD was conducted. RESULTS A significant association was found between lymphadenopathy with steroid therapy (OR: 20.125, 95%CI: 3.02, 134.09, P=0.0004). Extraosseous RDD showed significant association with steroid therapy (P=0.0145), T1-isointense MRI (OR: 0.173, 95%CI: 0.0304, 0.986, P=0.035), T1-hyperintense MRI (OR: 0.16, 95%CI: 0.0314, 0.815, P=0.019) and T2-hyperintense MRI (OR: 0.115, 95%CI= 0.0206, 0.6456, P=0.007). CONCLUSION Osseous RDD is rare and lacks standardized diagnosis and treatment protocols. Patients with lymphadenopathy were 9 times more likely to receive steroids, and those with extraosseous manifestations were less likely to undergo MRI. RDD is often not initially considered in differential diagnoses, leading to worsened conditions. We propose that further testing is required in affected individuals to develop standardized protocols.

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Rosai-Dorfman-Destombes (RDD) disease presenting as palindromic rheumatism

Cited by 5 publications

References 13 publications

Erdheim-Chester disease with Rosai-Dorfman-like lesions: treatment with methotrexate, anakinra and upadacitinib

Erdheim-Chester disease with Rosai-Dorfman-like lesions: treatment with methotrexate, anakinra and upadacitinib

FDG PET/CT in Isolated Thoracic Vertebral Rosai-Dorfman Disease

Manifestations, Diagnosis and Treatment of Osseous Rosai-Dorfman Disease: A Systematic Review

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