Erdheim-Chester disease, moving away from the orphan diseases: A case report

Abstract

With approximately 750 cases reported, Erdheim-Chester disease is an exceedingly rare histiocyte cell disorder. Affected sites typically include long bones, large vessels and central nervous system. However, cutaneous and pulmonary involvement can also occur. The diagnosis is ascertained by identification of foamy histiocytes positive for CD68, CD163, and factor XIIIa on immunoperoxidase staining. Recently published literature have described an association between Erdheim-Chester disease and BRAF V600E mutation. This finding prompted the investigation of therapeutic possibilities with BRAF inhibitors, successful agents against other BRAF mutation-positive diseases. Vemurafenib, a BRAF kinase inhibitor, has been shown to be effective in BRAF V600E mutation-positive malignancies, such as NSCLC and melanoma, as well as in several case reports of Erdheim-Chester disease. We report a case of Erdheim-Chester disease diagnosed at our institution, treated with vemurafenib.

18F-FDG PET/CT versus anatomic imaging for evaluating disease extent and clinical trial eligibility in Erdheim-Chester disease: results from 50 patients in a registry study

“…The study found that the sensitivity of [18]F-FDG PET/CT with respect to CT/MRI varied widely among organ systems, but that [18]F-FDG PET/CT was nearly 100% specific. Our study was different from this study in that [1] we did not assume that either modality was the gold standard, and also [2] we compared PET to CT outside of the nervous system where the prior study used MRI in other instances. Overall, we do not find our results at odds with this study, although our study highlights the possibility that [18]F-FDG PET/CT can detect lesions not seen on CT and therefore is of diagnostic value in the initial ECD evaluation.…”

“…18 F-FDG PET/CT of the body was reviewed for all patients, and dedicated 18 F-FDG PET/CTs of the brain were reviewed when available. The organ systems reviewed were [1] intracranial, [2] craniofacial, [3] spinal, [4] pulmonary, [5] cardiovascular, [6] GI tract, [7], reproductive, [8] osseous, [9] skin and subcutaneous soft tissues, [10] lymph nodes and other soft tissues, and [11] other sites of disease otherwise not in the above categories.…”

“…Erdheim-Chester disease (ECD) is a rare and clinically heterogeneous non-Langerhans cell histiocytosis with about 1000 reported cases to date [ 1 ]. In nearly all cases, ECD is a multisystemic disease with diverse manifestations which include skeletal involvement with bone pain, exophthalmos, diabetes insipidus, xanthelasmas, interstitial lung disease, adrenal enlargement, retroperitoneal fibrosis with perirenal or ureteral obstruction, renal impairment, testis infiltration, and the involvement of the central nervous system (CNS) or cardiovascular system [ 2 – 4 ].…”

Localized Erdheim-Chester disease involving the thyroid gland—a case report

“…To date, around 750 cases of ECD have been reported in literature (including around 500 cases in English literature in a PubMed search) [8,9]. Involvement of the extracranial head and neck region has been reported sparsely, with all of these cases being a part of systemic illness.…”

The Hairy Kidney of Erdheim-Chester Disease

“…The renal involvement seen in this image (Figure) displays a unique "hairy kidney" appearance commonly associated with Erdheim-Chester disease (ECD), 1 an extremely rare condition with approximately 750 reported cases in literature. 2 Erdheim-Chester disease is a none Langerhans cell histiocytosis characterized by the infiltration of foamy histiocytes with fibrosis that can affect many organs, most commonly long bones. 3 Renal involvement commonly manifests in this disease as a histiocytic infiltration into the perirenal fat (arrows).…”