Erdheim-Chester disease

Brychtová, Monika; Vlachová, Monika; Gregorová, Jana; Krejčí, Marta; Adam, Zdeněk; Ševčı́ková, Sabina

doi:10.48095/ccko2021434

Cited by 2 publications

(4 citation statements)

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“…Serious adverse events include different skin cancers (squamous cell carcinoma, melanoma or others), hyper-sensitivity skin reactions (anaphylaxis and DRESS syndrome), uveitis, hepatic and renal disorders, Stevens-Johnson syndrome and toxic epidermal necrolysis. [6,21] Our patient showed a maculopapular skin rash 2 weeks after therapy initiation, which regressed with steroids. Different clinical trials testing vemurafenib in melanomas showed that approximately 48% of patients manifested a mild to moderate cutaneous rash, and 5% of patients experienced a severe rash during the first weeks of administration.…”

Section: Discussionmentioning

confidence: 77%

“…The diagnosis of ECD is frequently delayed owing to its heterogeneous clinical presentation, which in most cases is challenging for clinicians. [6] We present the case of a 70-year-old man who consulted physicians for leg bone pain caused by multiple bone areas of osteosclerosis and was first diagnosed with metastases from a prostatic neoplasm. ECD was diagnosed 1 year later.…”

Section: Introductionmentioning

confidence: 99%

“…The diagnosis of ECD is frequently delayed owing to its heterogeneous clinical presentation, which in most cases is challenging for clinicians. [6]…”

Section: Introductionmentioning

confidence: 99%

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Erdheim-Chester disease as complex clinical presentation and diagnosis: A case report and concise review of literature

Gagliardo,

Giammanco,

Vaglio

et al. 2024

Medicine

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Rationale: Erdheim-Chester disease (ECD) is a rare multisystemic disease characterized by the infiltration of multiple organs by foamy CD68 + CD1a-histiocytes. The genetic background consists of gain-of-function somatic mutations in the mitogen-activated protein kinase pathway. The purpose of the present paper is to make a contribution to the scientific literature on ECD by reporting our experience with a complex clinical case report, along with a concise review of the literature. We discussed the unusual clinical presentation, the complex diagnostic process and the comparison with other published cases. Patient concerns: A 70-year-old man presented with arthralgia due to multiple bone areas of sclerosis, first diagnosed with metastases of a prostatic neoplasm. Sequential thorax-abdomen, femoral and homer contrast-enhanced computed tomography (CT) showed pericardial effusion, pulmonary fibrosis, and perirenal fibrous tissue as “hairy kidneys.” He underwent. Three bone biopsies were unsuccessful to reach diagnosis. Diagnoses: A xanthelasma biopsy showed histopathological signs compatible with ECD; genetic analysis showed the mutation BRAFV600E. Interventions: The patient underwent targeted therapy with vemurafenib (BRAF-inhibitor), discontinued 2 weeks later due to the onset of a diffuse erythematous papular rash on the trunk and limbs. Outcomes: At the 1-year follow-up, there was only progression of chronic kidney disease (CKD). Lessons: The present case report describes how ECD diagnosis could represent a challenge for clinicians, owing to its heterogeneous clinical presentation. Early diagnosis followed by prompt therapy is essential for modifying the natural history of the disease.

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Section: Discussionmentioning

confidence: 77%

Section: Introductionmentioning

confidence: 99%

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Erdheim-Chester disease as complex clinical presentation and diagnosis: A case report and concise review of literature

Gagliardo,

Giammanco,

Vaglio

et al. 2024

Medicine

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show abstract

“…It is characterized by abnormally high production and accumulation of foamy histiocytes and Touton giant cells in multiple organs and tissues. [ 1 ] All systems may be affected, resulting in an extremely variable clinic. The pathogenesis of ECD is characterized by cluster of differentiation (CD)68-positive and CD1a-negative histiocyte infiltration.…”

mentioning

confidence: 99%