Erdheim-Chester disease with epiphyseal and systemic disease.

Athanasou, Nicholas A.; Barbatis, C

doi:10.1136/jcp.46.5.481

Cited by 30 publications

(9 citation statements)

References 5 publications

(2 reference statements)

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“…To our best knowledge, CD1a was uniformly negative in all cases of ECD reported to date. In ECD, the lesional cells are usually S-100 negative, although positivity has been described in previous cases in the literature and in different organs in patients with otherwise typical disease (9,11,20). The histiocytes in sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease) are similar to those seen in ECD, but they frequently contain intact lymphocytes (emperipolesis).…”

Section: Discussionmentioning

confidence: 90%

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Erdheim-Chester Disease: Case Report, PCR-Based Analysis of Clonality, and Review of Literature

et al. 2002

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Erdheim-Chester disease (ECD) is a rare, distinct clinicopathologic entity with nearly pathognomonic radiographic features. The lesions consist of lipidstoring CD68 (؉), CD1a (؊) non-Langerhans' cell histiocytes, either localized to the bone or involving multiple organ systems in the body. Whether these histiocytic proliferations represent monoclonal neoplastic populations or are part of a polyclonal reactive process is unclear. We present a case report of ECD in a 35-year-old African-American woman with a progressive course over 6 years. We investigated the clonality of the histiocytes using the HU-MARA assay on paraffin-embedded tissue sections but did not find any evidence that these cells represent a monoclonal population. In this report, the characteristics of ECD are reviewed, the genetic basis of the HUMARA assay is discussed, and our results in the context of other clonality investigations reported in the literature to date are summarized.

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Section: Discussionmentioning

confidence: 90%

“…It is usually diagnosed on the basis of the nearly pathognomonic radiographic features showing bilateral symmetrical osteosclerosis of the long bones, almost always sparing the epiphyses. However, epiphyseal involvement has been previously reported (20). Approximately one third of the patients have additional lytic bone changes.…”

Section: Discussionmentioning

confidence: 99%

Erdheim-Chester Disease: Case Report, PCR-Based Analysis of Clonality, and Review of Literature

et al. 2002

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“…long bones of the extremities, and typically forms lesions of diaphysal and metaphysal cortical osteosclerosis [13,35,71,160,187]. While JXG is typical in small children, ECD is a disease of adults and rarely affects toddlers [223].…”

Section: Histiocytoses Of the L Groupmentioning

confidence: 99%

The Non-Langerhans Cell Histiocytoses (Rare Histiocytoses) – Clinical Aspects and Therapeutic Approaches

2016

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Rare histiocytoses, also called non-Langerhans cell histiocytoses, include all proliferative disorders of histiocytes, macrophages and dendritic cells that are not classified as Langerhans cell histiocytosis (LCH) and do not belong to the hemophagocytic lymphohistiocytosis (HLH) group of diseases. Thus, the term includes numerous benign or malignant, localized or systemic, adult or pediatric diseases. The classification of the histiocytic disorders has been revised several times. Here, we follow the classification recently published by Jean Francois Emile and an international expert panel, defining subgroups of histiocytoses described as L-Group, C-Group, M-Group, R-Group, and H-Group, which stands for LCH-like, cutaneous or mucocutaneous, malignant, Rosai-Dorfman-Disease like and HLH like. Some of the diseases have an excellent prognosis after resection or even disappear spontanously, others progress rapidly, requiring intensive systemic therapies. The malignant non-Langerhans cell histiocytoses in general have a poor prognosis, here, complex chemotherapy protocols are usually applied, with inconsistant results. An interesting perspective in non-malignant rare histiocytoses might be small molecular inhibitors, in particular BRAF inhibitors, since BRAF mutations have been found in some subtypes of non-Langerhans cell histiocytoses. By prospective and retrospective collection of experiences in a new registry (the "International Rare Histiocytic Disorders Registry", IRHDR), knowledge about these rare diseases might hopefully be improved.

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“…Radiographic abnormalities are distinctive and always bilateral. The limbs are predominantly involved with diffuse symmetric sclerotic lesions of the diaphyseal and metaphyseal parts of the major long bones, and sparing of the epiphyses (although involvement of the epiphysis has been described in a few cases) [2,4,5,9,10]. Additional lesions can be found in the ribs, sacrum, craniofacial bones and lumbar vertebrae.…”

Section: Discussionmentioning

confidence: 94%