A patient with diabetes insipidus and periorbital swellings; ErdheimâChester disease

I, van der Lee; Ph, Slee; Elbers,

doi:10.1016/s0300-2977(99)00044-3

Cited by 11 publications

(2 citation statements)

References 12 publications

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“…There is an ongoing debate regarding the origin of the non-Langerhans' cell histiocytes in ECD (3)(4)(5)(6). The clinicopathological and radiological features of this disease are different from those of Langerhans' cell histiocytosis (LCH; 7-11), which is characterized by the proliferation of S100ϩ and CD1aϩ Langerhans' cells.…”

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confidence: 99%

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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confidence: 99%

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

et al. 2002

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“…6 7 9 By our criteria, there was no evidence of immune dysfunction in AOX and only one case of ECD had evidence of immune dysfunction. 10 All ECD cases had internal organ dysfunction, including pericardial or pleural effusions, retroperitoneal involvement, 6 7 ôNominal logistic regression showed no significant difference in mean age (p = 0.059). 7 8 Unable to determine number from Veyssier-Belot's series (ECD).…”

Section: Resultsmentioning

confidence: 91%

Adult xanthogranulomatous disease of the orbit and ocular adnexa: new immunohistochemical findings and clinical review

Sivak-Callcott

Rootman²,

Rasmussen³

et al. 2006

British Journal of Ophthalmology

166

156

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Background/aims: Adult xanthogranulomatous disease involving the ocular tissues is rare and poorly understood. Adult onset xanthogranuloma (AOX), adult onset asthma and periocular xanthogranuloma (AAPOX), necrobiotic xanthogranuloma (NBX), and Erdheim-Chester disease (ECD) are the four syndromes within this disorder, which is diagnosed by characteristic histopathology. Experience with eight cases prompted a multi-institutional effort to study the histopathology, immunohistochemistry, clinical findings, and systemic associations in this disorder. Methods: 22 cases, including histopathological slides, were compiled. Published reports were identified by an English language Medline search and review of reference citations. Each case in this series and the literature was classified as one of four syndromes and then analysed for age onset, sex, skin xanthoma, orbital location, immune dysfunction, internal organ and bone lesions, treatment, and outcome. The histopathology in each of these cases was reviewed by two pathologists. Immunhistochemical stains (CD3, CD4, CD8, L26) were performed in 14 cases where unstained slides were available. Results: 137 cases were compiled. There was no sex or age difference between syndromes. AOX, AAPOX, NBX affect the anterior orbit, ECD tends to be diffuse and intraconal. Skin lesions are found in all the syndromes. Immune dysfunction was noted in all cases of AAPOX and NBX; 11% of NBX and all ECD patients had internal organ disease. Treatment included surgery, corticosteroids, other chemotherapeutic agents, radiotherapy, and combinations of these. No AOX or AAPOX deaths occurred; 66% of ECD patients died. All 22 cases had xanthoma cells; most had Touton giant cells. Lymphocytes were present in all cases and occurred as aggregates (mostly in AAPOX) or diffuse populations mixed with fibroblasts (mostly in ECD). Immunohistochemistry revealed the majority of these to be CD8+. Necrosis was most marked in NBX. Conclusion: Adult xanthogranuloma of the orbit is rare, making prospective evaluation or meta-analysis impossible. The best treatment is unknown but seems to be with multiagent chemotherapy guided by histopathological, immunohistochemical, and systemic findings.

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Orbital Pathology

Müller‐Forell¹,

Pitz²

2006

Medical Radiology

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A patient with diabetes insipidus and periorbital swellings; ErdheimâChester disease

Cited by 11 publications

References 12 publications

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

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

Adult xanthogranulomatous disease of the orbit and ocular adnexa: new immunohistochemical findings and clinical review

Orbital Pathology

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A patient with diabetes insipidus and periorbital swellings; ErdheimâChester disease

Cited by 11 publications

References 12 publications

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

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

Adult xanthogranulomatous disease of the orbit and ocular adnexa: new immunohistochemical findings and clinical review

Orbital Pathology

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A patient with diabetes insipidus and periorbital swellings; ErdheimâChester disease