Erdheim-Chester Disease: Two cases from an ophthalmic perspective

Brodie, J.; Zhou, Sean; Makkuni, Damodar; Beadsmoore, Clare; Mukhtyar, Chetan; Saada, Janak; Bowles, Kristian M.; Beigi, Bijan; Burton, B J L

doi:10.1016/j.ajoc.2020.100984

Cited by 9 publications

(9 citation statements)

References 12 publications

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“…In two additional case reports, the first patient presented with a mix of orbital and neurological manifestations, and the patient had an indolent course of the disease. The treatment was initiated after two years of diagnosis, resulting in the reversal of vision loss and recovery from the other systemic manifestations [20]. In the second case, the disease course was more aggressive, the patient lost sight in six weeks, and treatment with vemurafenib was unable to prevent blindness in this patient [20].…”

Section: Orbital and Corioretinal Responsementioning

confidence: 99%

“…The treatment was initiated after two years of diagnosis, resulting in the reversal of vision loss and recovery from the other systemic manifestations [20]. In the second case, the disease course was more aggressive, the patient lost sight in six weeks, and treatment with vemurafenib was unable to prevent blindness in this patient [20].…”

Section: Orbital and Corioretinal Responsementioning

confidence: 99%

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Vemurafenib in the Treatment of Erdheim Chester Disease: A Systematic Review

Aziz¹,

Proano²,

Cruz³

et al. 2022

Cureus

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Erdheim Chester disease (ECD) is a type of histiocytosis characterized by a variable clinical presentation. The treatment of ECD is complex and mainly unknown. We aim to conduct a literature review of the treatment of ECD and consolidate the knowledge about the most recent and updated treatment for ECD. To conduct the systematic review, we used the preferred reporting items for systematic reviews and metaanalysis (PRISMA) protocol.To analyze the bias, we used the Cochrane collaboration risk-of-bias tool to assess the bias. We included observational studies and clinical trials on humans, which were written in English. Papers not fulfilling the objective of our study were excluded.Overall, the drug showed efficacy in the clinical trials, showing prolonged improvement and high rates of response rate. Overall, the drug was not well tolerated, and patients had a long list of side effects. Nevertheless, the drug seems to be a good option for second-line treatment for patients with ECD and BRAFV600 mutation.

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Section: Orbital and Corioretinal Responsementioning

confidence: 99%

Section: Orbital and Corioretinal Responsementioning

confidence: 99%

Vemurafenib in the Treatment of Erdheim Chester Disease: A Systematic Review

Aziz¹,

Proano²,

Cruz³

et al. 2022

Cureus

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“…29,30 Other reported eye findings include palpebral xanthelasmas, which are the most common cutaneous finding, seen in 30%-75% of patients. 31,32 Intraocular findings have been described only in a handful of cases and include anterior uveitis, vitritis, choroidal infiltration, optic disc edema, cystoid macular edema, recurrent serous retinal detachment, retinal drusenlike deposits, and retinal pigment epithelial changes. [33][34][35][36][37] Visual symptoms are reported in 3% of patients overall who are diagnosed with ECD and 23% of those with central nervous system involvement.…”

Section: Review Of Literature and Case Discussionmentioning

confidence: 99%

Ophthalmologic Findings in Pediatric Erdheim-Chester Disease: A Literature Review With a Novel Case Report

Yeager

Grimes

Col

et al. 2023

Ophthalmic Plastic &Amp; Reconstructive Surgery

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Purpose: The authors aim to describe the ophthalmologic manifestations of pediatric Erdheim-Chester disease (ECD). Methods: The authors describe a novel case of ECD presenting as isolated bilateral proptosis in a child and provide a comprehensive review of the documented pediatric cases to observe overall trends and ophthalmic manifestations of disease. Twenty pediatric cases were identified in the literature. Results: The mean age at presentation was 9.6 years (1.8–17 years) with a mean time of symptom presentation to diagnosis of 1.6 years (0–6 years). Nine patients (45%) had ophthalmic involvement at diagnosis, 4 who presented with ophthalmic complaints: 3 with observable proptosis and 1 with diplopia. Other ophthalmic abnormalities included eyelid findings of a maculopapular rash with central atrophy on the eyelids and bilateral xanthelasmas, neuro-ophthalmologic findings of a right hemifacial palsy accompanied by bilateral optic atrophy and diplopia, and imaging findings of orbital bone and enhancing chiasmal lesions. No intraocular involvement was described, and visual acuity was not reported in most cases. Conclusions: Ophthalmic involvement occurs in almost half of documented pediatric cases. Typically presenting with other symptoms, the case highlights that isolated exophthalmos may be the only clinical sign, and ECD should be included in the differential diagnosis of bilateral exophthalmos in children. Ophthalmologists may be the first to evaluate these patients, and a high index of suspicion and an understanding of the varied clinical, radiographic, pathologic, and molecular findings are critical for prompt diagnosis and treatment of this unusual disease.

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“…O terceiro grupo mais comum de manifestações relatadas da doença de Erdheim-Chester são as manifestações oftálmicas, correspondendo a 16 artigos. Entre as manifestações relatadas estão: proptose bilateral, nistagmo, diplopia, perda progressiva da acuidade visual, exoftalmia, lesões semelhantes a xantelasmas, infiltração da coróide, além de lesões com envolvimento das órbitas (6,7,17,18,(34)(35)(36)(37)(38)(39)(40)(41)(42)(43)(44).…”

Section: Discussionunclassified

Doença de Erdheim Chester com envolvimento isolado do SNC

Rodrigues¹,

Ribeiro²,

Faria³

et al. 2022

Braz. J. Hea. Rev.

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Introdução: A Doença de Erdheim-Chester é uma forma de histiocitose de células não-Langerhans que ocorre mais frequentemente após os 40 anos de idade, com leve predomínio no sexo masculino. Apresentação do caso: Paciente, sexo masculino, branco, X anos de idade, admitido no Hospital das Clínicas de Goiânia, com sintomas de cefaléia crônica, de caráter progressivo de inicio há 3 meses, associados a sintomas neurológicos de ataxia e diplopia. Referiu febre baixa diária, não aferida, com perda de 10kg no período descrito, não associado a dieta ou mudança de hábitos de vida. Nega comorbidades ou uso de medicamentos. Ao exame físico, apresenta quadro de Nistagmo e Romberg positivo e alteração da úvula para direita. Paciente não apresentava outros sinais dignos de nota. Discussão: Foram selecionados para a revisão, os artigos de relato de caso ou séries de caso relacionados a manifestações clínicas da doença de Erdheim-Chester. Os principais tipos manifestações clínicas relatadas na literatura são: neurológicas, cardiovasculares, oftálmicas, endócrinas, urinárias, hematológicas, ósseas, cutâneas, respiratórias, gastrointestinais, envolvimento de múltiplos sistemas e outras. Entre esses tipos de manifestações, as mais frequentes foram neurológicas, cardiovasculares e oftálmicas, correspondendo a 48% das manifestações relatadas. Conclusão: É fundamental ter uma equipe multidisciplinar acompanhando o paciente, para que sejam evitadas complicações e se possa proporcionar qualidade de vida ao paciente.

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Erdheim-Chester Disease: Two cases from an ophthalmic perspective

Cited by 9 publications

References 12 publications

Vemurafenib in the Treatment of Erdheim Chester Disease: A Systematic Review

Vemurafenib in the Treatment of Erdheim Chester Disease: A Systematic Review

Ophthalmologic Findings in Pediatric Erdheim-Chester Disease: A Literature Review With a Novel Case Report

Doença de Erdheim Chester com envolvimento isolado do SNC

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