Erdheim-Chester Disease: Two cases from an ophthalmic perspective
| Autor: | Damodar Makkuni, Janak Saada, James Brodie, Kristian M. Bowles, Bijan Beigi, Ben J.L. Burton, Clare Beadsmoore, Sean Zhou, Chetan Mukhtyar |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
genetic structures Case Report Disease Erdheim-chester disease BRAF 03 medical and health sciences 0302 clinical medicine lcsh:Ophthalmology medicine Orbital mass Vemurafenib Genetic testing medicine.diagnostic_test business.industry Dabrafenib medicine.disease Ophthalmology Histiocytosis Xanthelasma lcsh:RE1-994 Erdheim–Chester disease 030221 ophthalmology & optometry Organ involvement Orbital inflammation Radiology business 030217 neurology & neurosurgery medicine.drug |
| Zdroj: | American Journal of Ophthalmology Case Reports American Journal of Ophthalmology Case Reports, Vol 20, Iss, Pp 100984-(2020) |
| ISSN: | 2451-9936 |
| DOI: | 10.1016/j.ajoc.2020.100984 |
| Popis: | Purpose We report two patients who presented initially to ophthalmology clinics with symptoms and signs of orbital inflammation that led to a diagnosis of Erdheim-Chester Disease (ECD). Observations ECD is a rare form of non-Langerhans cell histiocytosis (LCH) which is characterised by multi-system organ involvement and poor prognosis with standard therapies. Both patients were positive for the BRAF V600E mutation on genetic testing and were treated with the BRAF inhibitors Vemurafenib and Dabrafenib respectively. These cases highlight the variable clinical presentation and course of ECD, the classical radiological and histopathological findings, and the high degree of clinical suspicion necessary to reach this diagnosis. Conclusions and importance The combination of xanthelasma and bilateral, diffuse intraconal orbital masses must suggest to the clinician the possibility of ECD; and consideration to arrange further investigation with a full body CT or FDG PET/CT scan should be given, even in the absence of wider systemic symptoms or signs. With the advent of targeted therapies such as BRAF inhibitors, it is of even more importance that a diagnosis of ECD is established in a timely manner in order to give these patients the best chance of reduced morbidity and increased survival. |
| Databáze: | OpenAIRE |
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