Maladie de Rosai-Dorfman à révélation cutanée : 7 observations

Vuong, V.; Moulonguet, Isabelle; Cordoliani, F.; Crickx, B; Bézier, M.; Vignon‐Pennamen, Marie‐Dominique; Flageul, B.; Bagot, Martine; Petit, Arnaud

doi:10.1016/j.annder.2012.06.036

Cited by 16 publications

(5 citation statements)

References 22 publications

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“…Histiocytic sarcomas and lysosomal storage diseases such as Gaucher disease and Fabry disease and various histiocytoses may also be suspected 7, 27–31 . Langerhans cell histiocytosis, with its pathognomonic cell features, can be differentiated from ECD by staining for CD1a and langerin 7, 13 .…”

Section: Discussionmentioning

confidence: 99%

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The clinical spectrum of Erdheim-Chester disease: an observational cohort study

Estrada-Veras¹,

O’Brien

Boyd³

et al. 2017

Blood Advances

187

232

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Erdheim-Chester Disease (ECD) is a rare, potentially fatal, multi-organ myeloid neoplasm occurring mainly in adults. The diagnosis is established by clinical, radiologic, and histologic findings; ECD tumors contain foamy macrophages that are CD68+, CD163+, CD1a-, and frequently S100-. The purpose of this report is to describe the clinical and molecular variability of ECD. Sixty consecutive ECD patients (45 males, 15 females) were prospectively evaluated at the NIH Clinical Center between 2011 and 2015. Comprehensive imaging and laboratory studies were performed, and tissues were examined for BRAF V600E and MAPK pathway mutations. Mean age at first manifestations of ECD was 46 years; a diagnosis was established, on average, 4.2 years after initial presentation. Bone was the most common tissue affected, with osteosclerosis in 95% of patients. Other manifestations observed in one-third to two-thirds of patients include cardiac mass and periaortic involvement, diabetes insipidus, retro-orbital infiltration, retroperitoneal, lung, CNS, skin and xanthelasma, usually in combination. Methods of detection included imaging studies of various modalities. Mutation in BRAF V600E was detected in 51% of 57 biopsies. One patient had an ARAF D228V mutation, and one had an activating ALK fusion. Treatments included interferon alpha, imatinib, anakinra, cladribine, vemurafenib and dabrafenib with trametinib; eleven patients received no therapy. The diagnosis of ECD is elusive because of the rarity and varied presentations of the disorder. Identification of BRAF and other MAPK pathway mutations in biopsies improves ECD diagnosis, allows for development of targeted treatments, and demonstrates that ECD is a neoplastic disorder.

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Section: Discussionmentioning

confidence: 99%

“…Moreover, RDD lesions exhibit emperipolesis and strong S-100 positivity, and JXG does not involve the long bones 7 . Finally, both RDD and JXG can have a benign course or exhibit regression 31–33 ; for ECD, progression is nearly universal if untreated, and no case of regression has been documented.…”

Section: Discussionmentioning

confidence: 99%

The clinical spectrum of Erdheim-Chester disease: an observational cohort study

Estrada-Veras¹,

O’Brien

Boyd³

et al. 2017

Blood Advances

187

232

View full text Add to dashboard Cite

show abstract

“…As stated before, prognosis is good, as 70-80% of the cases showed spontaneous regression of the lesions [6,10]. Only in 5-10% of patients the disease will progress and will rarely have a fatal course [1].…”

Section: Discussionmentioning

confidence: 90%

A 47-Year-Old Man With Rosai-Dorfman Disease

Pereira¹

2014

J Med Cases

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Rosai-Dorfman is a rare and benign disease with unknown etiology, characterized by histiocytosis and emperipolesis, generally associated with lymphadenopathy. It is mainly observed in Caucasians and African children and young adults. A 47-year-old man, Caucasian, with a personal history of chronic alcoholism presented with two lymph nodes with progressive growth over a period of 6 months, one located in the pre-auricular region with 2 cm and another in the sub-mandibular region with 3 cm. Clinical examination showed two discrete, non-tender, painless and immobile nodes. Biopsy of the nodes was performed. Emperipolesis and cells expressing positive immunoreactivity for protein S-100, CD1a and CD68 were observed making the diagnosis of Rosai-Dorfman disease (RDD). RDD is a benign pathology, self-limited and no special treatment is needed in most cases.

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“…As skin lesions can be the initial manifestation of systemic disease, we believe that CT-scans should be performed in patients presenting solely cutaneous lesions, to screen for visceral involvement. 2,14 …”

Section: Discussionmentioning

confidence: 99%

Histological variability and the importance of clinicopathological correlation in cutaneous Rosai-Dorfman disease

Gameiro¹,

Gouveia²,

Cardoso³

2016

An. Bras. Dermatol.

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Rosai-Dorfman disease is a benign histiocytic proliferative disorder of unknown etiology. The disease mainly affects lymph node tissue, although it is rarely confined to the skin. Here, we describe a 53-year-old woman with purely cutaneous Rosai-Dorfman disease. The patient presented with a large pigmented plaque on her left leg, and sparse erythematous papules on her face and arms. A complete clinical response was achieved with thalidomide, followed by recurrence at the initial site one year later. The histological examination displayed the typical features of Rosai-Dorfman disease in the recent lesions but not in the older lesions. In the setting of no lymphadenopathy, the histopathological features of Rosai-Dorfman disease are commonly misinterpreted. Therefore, awareness of the histological aspects present at different stages, not always featuring the hallmark microscopic signs of Rosai-Dorfman disease, is particularly important for a correct diagnosis of this rare disorder.

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Maladie de Rosai-Dorfman à révélation cutanée : 7 observations

Cited by 16 publications

References 22 publications

The clinical spectrum of Erdheim-Chester disease: an observational cohort study

The clinical spectrum of Erdheim-Chester disease: an observational cohort study

A 47-Year-Old Man With Rosai-Dorfman Disease

Histological variability and the importance of clinicopathological correlation in cutaneous Rosai-Dorfman disease

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