Erdheim-Chester Disease: Two cases from an ophthalmic perspective
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-syste...
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| Format: | Article |
| Language: | English |
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Elsevier
2020-12-01
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| Series: | American Journal of Ophthalmology Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2451993620302991 |
| _version_ | 1818666397926948864 |
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| author | James Brodie Sean Zhou Damodar Makkuni Clare Beadsmoore Chetan Mukhtyar Janak Saada Kristian M. Bowles Bijan Beigi Ben J.L. Burton |
| author_facet | James Brodie Sean Zhou Damodar Makkuni Clare Beadsmoore Chetan Mukhtyar Janak Saada Kristian M. Bowles Bijan Beigi Ben J.L. Burton |
| author_sort | James Brodie |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-17T06:03:53Z |
| format | Article |
| id | doaj.art-c3bee975ad644977b2984d6c2c81851d |
| institution | Directory Open Access Journal |
| issn | 2451-9936 |
| language | English |
| last_indexed | 2024-12-17T06:03:53Z |
| publishDate | 2020-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | American Journal of Ophthalmology Case Reports |
| spelling | doaj.art-c3bee975ad644977b2984d6c2c81851d2022-12-21T22:00:48ZengElsevierAmerican Journal of Ophthalmology Case Reports2451-99362020-12-0120100984Erdheim-Chester Disease: Two cases from an ophthalmic perspectiveJames Brodie0Sean Zhou1Damodar Makkuni2Clare Beadsmoore3Chetan Mukhtyar4Janak Saada5Kristian M. Bowles6Bijan Beigi7Ben J.L. Burton8Department of Ophthalmology, James Paget University Hospitals NHS Trust, Great Yarmouth, Norfolk, United Kingdom; Department of Ophthalmology, Norfolk and Norwich University Hospital NHS Trust, Norwich, Norfolk, United Kingdom; Corresponding author. Sidestrand, Wherry Road, Norwich, NR1 1TB, United Kingdom.Department of Ophthalmology, James Paget University Hospitals NHS Trust, Great Yarmouth, Norfolk, United KingdomDepartment of Rheumatology, James Paget University Hospitals NHS Trust, Great Yarmouth, Norfolk, United KingdomDepartment of Radiology, Norfolk and Norwich University Hospital NHS Trust, Norwich, Norfolk, United KingdomDepartment of Rheumatology, Norfolk and Norwich University Hospital NHS Trust, Norwich, Norfolk, United KingdomDepartment of Radiology, Norfolk and Norwich University Hospital NHS Trust, Norwich, Norfolk, United KingdomDepartment of Medicine – Haematology, Norfolk and Norwich University Hospital NHS Trust, Norwich, Norfolk, United KingdomDepartment of Ophthalmology, Norfolk and Norwich University Hospital NHS Trust, Norwich, Norfolk, United KingdomDepartment of Ophthalmology, James Paget University Hospitals NHS Trust, Great Yarmouth, Norfolk, United KingdomPurpose: 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.http://www.sciencedirect.com/science/article/pii/S2451993620302991HistiocytosisErdheim-chester diseaseVemurafenibBRAFOrbital massOrbital inflammation |
| spellingShingle | James Brodie Sean Zhou Damodar Makkuni Clare Beadsmoore Chetan Mukhtyar Janak Saada Kristian M. Bowles Bijan Beigi Ben J.L. Burton Erdheim-Chester Disease: Two cases from an ophthalmic perspective American Journal of Ophthalmology Case Reports Histiocytosis Erdheim-chester disease Vemurafenib BRAF Orbital mass Orbital inflammation |
| title | Erdheim-Chester Disease: Two cases from an ophthalmic perspective |
| title_full | Erdheim-Chester Disease: Two cases from an ophthalmic perspective |
| title_fullStr | Erdheim-Chester Disease: Two cases from an ophthalmic perspective |
| title_full_unstemmed | Erdheim-Chester Disease: Two cases from an ophthalmic perspective |
| title_short | Erdheim-Chester Disease: Two cases from an ophthalmic perspective |
| title_sort | erdheim chester disease two cases from an ophthalmic perspective |
| topic | Histiocytosis Erdheim-chester disease Vemurafenib BRAF Orbital mass Orbital inflammation |
| url | http://www.sciencedirect.com/science/article/pii/S2451993620302991 |
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