Erdheim-Chester Disease: Two cases from an ophthalmic perspective

American Journal of Ophthalmology Case Reports

Damodar Makkuni¹  Sean Zhou²  Ben J.L. Burton³  James Brodie⁴  Clare Beadsmoore⁴  Bijan Beigi⁵  Janak Saada⁵  Chetan Mukhtyar⁶  Kristian M. Bowles⁷ 

[1] Corresponding author. Sidestrand, Wherry Road, Norwich, NR1 1TB, United Kingdom.;Department of Ophthalmology, Norfolk and Norwich University Hospital NHS Trust, Norwich, Norfolk, United Kingdom;Department of Medicine – Haematology, Norfolk and Norwich University Hospital NHS Trust, Norwich, Norfolk, United Kingdom;Department of Ophthalmology, James Paget University Hospitals NHS Trust, Great Yarmouth, Norfolk, United Kingdom;Department of Radiology, Norfolk and Norwich University Hospital NHS Trust, Norwich, Norfolk, United Kingdom;Department of Rheumatology, James Paget University Hospitals NHS Trust, Great Yarmouth, Norfolk, United Kingdom;Department of Rheumatology, Norfolk and Norwich University Hospital NHS Trust, Norwich, Norfolk, United Kingdom;

关键词: Histiocytosis;    Erdheim-chester disease;    Vemurafenib;    BRAF;    Orbital mass;    Orbital inflammation;   

DOI  :  

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown