Histiocytosis

Émile, Jean-François; Cohen‐Aubart, Fleur; Collin, Matthew; Fraïtag, Sylvie; Idbaïh, Ahmed; Abdel‐Wahab, Omar; Rollins, Barrett J.; Donadieu, Jean; Haroche, Julien

doi:10.1016/s0140-6736(21)00311-1

Cited by 82 publications

(97 citation statements)

References 122 publications

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“…Salvage therapy with dexamethasone and vinblastine could be a good option in severe bleeding. As MEK-inhibitors have shown a dramatic efficacy in histiocytic disorder (30,31), Cobimetinib would be the best option for RDD life-threatening involvement. Interestingly, targeted therapies (BRAF and MEK-inhibitors) does not worsen auto-immunity in histiocytosis (11).…”

Section: Discussionmentioning

confidence: 99%

Immune Thrombocytopenia Revealing Enriched IgG-4 Peri-Renal Rosai-Dorfman Disease Successfully Treated with Rituximab: A Case Report and Literature Review.

et al. 2021

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Immune thrombocytopenia (ITP) is a rare autoimmune-mediated condition characterized by isolated thrombocytopenia (<100 G/L) after exclusion of other causes. Mostly primary, it is associated with hematological malignancy, autoimmune disorders, or infection in 20% of patients. It is exceptionally described in patients with histiocytosis, mostly in children (seven patients in literature). We report a case of a 69-year-old man with ITP leading to the diagnosis of histiocytosis. At ITP's diagnosis, the patient had elevated gamma-globulins leading to computed tomography showing bilateral peri-renal infiltration. The biopsy showed enriched IgG-4 peri-renal Rosai Dorfman disease with MAP2K1 mutation, although peri-renal infiltration is highly suggestive of Erdheim-Chester disease. This overlapping association was described in men with mutation in MAP2K1 gene. Macrophages are implicated in the pathophysiology of ITP in multiple ways, notably by the phagocytosis of opsonized platelets and their function of antigen-presenting cells able to stimulate autoreactive T cells. Histiocytic cells derivate from monocyte-macrophage lineage. Activation of macrophages in active histiocytosis is responsible for consequential platelet destruction in ITP associated histiocytosis. Finally, this case highlights a rare presentation of ITP revealing histiocytosis, both being efficiently treated with rituximab.

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Section: Discussionmentioning

confidence: 99%

Immune Thrombocytopenia Revealing Enriched IgG-4 Peri-Renal Rosai-Dorfman Disease Successfully Treated with Rituximab: A Case Report and Literature Review.

et al. 2021

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“…The histiocytic proliferation has been proven as polyclonal, reactive and non-neoplastic [ 12 ]. In the revised classification of histiocytoses and neoplasms of macrophage-dendritic cell lineages, RDD belongs to the R group, which is further classified into five main subgroups, including familial RDD, classical (nodal) RDD, extra-nodal RDD, neoplasia-associated RDD and immune-disease-associated RDD [ 5 , 13 ].…”

Section: Introductionmentioning

confidence: 99%

Ophthalmic Rosai–Dorfman disease: a multi-centre comprehensive study

et al. 2021

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Background To provide basic demographic information and clinicopathologic features of ophthalmic Rosai–Dorfman disease (RDD) with a literature review. Methods A multi-centre retrospective case series reviewing all patients with histopathologically confirmed ophthalmic RDD at three tertiary eye care centres between January 1993 and December 2018. Results Eleven eyes of eight patients with histopathologically confirmed ophthalmic RDD were included, with equal numbers of males and females. The median age was 40.25 years (range: 26.6–72.4). Two patients had familial RDD. The orbit was the most commonly involved site (90.9% eyes). One patient (one eye) presented with a scleral nodule, anterior uveitis and cystoid macular oedema. Visual acuity ranged from 20/25 to light perception. Six patients had an extra-nodal ophthalmic disease, and the remaining two had an associated submandibular lymphadenopathy (nodal RDD). Conclusions Ophthalmic RDD can be the only manifestation of this systemic disease, with the orbit being the most commonly involved site, exhibiting bone destruction, intracranial and/or sinus involvement and variable degree of visual loss. Ophthalmic familial RDD represent a severe form with a malignant course. Steroid monotherapy may be inadequate to control orbital RDD; thus, combined treatment is usually necessary. A comprehensive approach to assessment and management is recommended.

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“…Erdheim-Chester disease (ECD) is a rare clonal histiocytic disorder, reclassified as histiocytic neoplasm in the 2016 WHO classification, most commonly characterized by an insidious course with cumulative tissue infiltration by foamy CD68+CD1a- histiocytes; the progressive multisystem disease can be fatal if untreated [ 1 , 2 ]. Histiocytoses are a clinically heterogeneous group of rare disorders characterized by infiltration of any tissue with protean manifestations [ 3 ]. The histology and manifestations may not always allow to differentiate between different entities, while the molecular underlying defects may be common (e.g.…”

Section: Introductionmentioning

confidence: 99%

“…The histology and manifestations may not always allow to differentiate between different entities, while the molecular underlying defects may be common (e.g. ECD, cases of Rosai-Dorfman disease and juvenile xanthogranuloma) [ 3 ]. ECD predominantly affects men (ratio 2.4:1) and the median age at diagnosis is 55 years [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

“…ECD, cases of Rosai-Dorfman disease and juvenile xanthogranuloma) [ 3 ]. ECD predominantly affects men (ratio 2.4:1) and the median age at diagnosis is 55 years [ 3 ]. The interval between symptom onset and diagnosis has decreased in recent years and was estimated to be on average 2.7 years in a case series comprising 261 patients out of approximately 1500 ever diagnosed with the disease globally [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

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Diagnosing a Patient with Erdheim-Chester Disease during the COVID-19 Pandemic

et al. 2021

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Background: Erdheim-Chester disease (ECD) is a rare hematopoietic neoplasm of histiocytic origin characterized by an insidious course. The coronavirus disease 2019 (COVID-19) pandemic has put an enormous strain on healthcare systems worldwide both directly and indirectly, resulting in the disruption of healthcare services to prevent, diagnose and manage non-COVID-19 disease. Case Presentation: We describe the case of a 58-year-old male patient with sporadic episodes of self-resolving mild fever and anemia of chronic disease with onset two years before the current presentation. Positron emission/computed tomography scan revealed the presence of moderately hypermetabolic perirenal tissue masses. In order to achieve diagnosis, repeated perirenal tissue biopsies were performed, and the diagnostic evaluation was complicated by the strain put on the healthcare system by the COVID-19 pandemic. The patient contracted SARS-CoV-2 and required hospitalization, but recovered fully. No further ECD target organ involvement was documented. Treatment options were presented, but the patient chose to defer treatment for ECD. Conclusion: A high index of suspicion and multidisciplinary team collaboration is paramount to achieve diagnosis in rare conditions such as ECD. Disruptions in healthcare services in the pandemic milieu may disproportionately affect people with rare diseases and further study and effort is required to better meet their needs in the pandemic setting.

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Histiocytosis

Cited by 82 publications

References 122 publications

Immune Thrombocytopenia Revealing Enriched IgG-4 Peri-Renal Rosai-Dorfman Disease Successfully Treated with Rituximab: A Case Report and Literature Review.

Immune Thrombocytopenia Revealing Enriched IgG-4 Peri-Renal Rosai-Dorfman Disease Successfully Treated with Rituximab: A Case Report and Literature Review.

Ophthalmic Rosai–Dorfman disease: a multi-centre comprehensive study

Diagnosing a Patient with Erdheim-Chester Disease during the COVID-19 Pandemic

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