Erdheim-Chester Disease and Eyes
Transcript of Erdheim-Chester Disease and Eyes
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O M A R O Z G U R , M DO C T O B E R 1 0 , 2 0 1 5
9 : 3 0 - 1 0 : 0 0 A M
O P H T H A L M I C P L A S T I C A N D R E C O N S T R U C T I V E S U R G E R Y A N D O R B I T A L O N C O L O G Y F E L L O W
D E P A R T M E N T O F P L A S T I C S U R G E R YT H E U N I V E R S I T Y O F T E X A S M D A N D E R S O N C A N C E R C E N T E R
H O U S T O N , T X , U N I T E D S T A T E S
Erdheim-Chester Disease and Eyes
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Outline
Anatomy and function of the eye and orbit
Background and overview of ECD What can ECD do to the eye?
Double vision Pain Exophthalmos
Overview of an eye exam General eye conditions that may also occur
Droopy eyelids Dry eye syndrome Cataracts Refractive error
Questions Please ask anytime!
Double vision
www.nasa.gov – Cat’s Eye Nebula
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Background anatomy
https://c2.staticflickr.com/2/1363/542580866_940d2f9a02.jpg
http://fiftylives.org/blog/wp-content/uploads/2012/08/Cornea.jpg
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Eye anatomy
http://www.retina-doctors.com/galleries/splash_patients/Eye%20anatomy%20-%20AN0003.jpg
https://c2.staticflickr.com/2/1363/542580866_940d2f9a02.jpg
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Optic nerves
http://antranik.org/wp-content/uploads/2011/11/optic-nerve-lateral-geniculate-nucleus-of-thalamus-optic-radiation-visual-cortex.jpg?9873a6http://www.vision-and-eye-health.com/images/GCA-AION.jpg
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Orbital anatomy
http://msk-anatomy.blogspot.com/2014/12/cranial-nerves-anatomy.html
http://www.leventefe.com.au/portfolio/mi-tec-medical-media-3/
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Eyelid structure
http://www.mastereyeassociates.com/blepharitis
http://www.medindia.net/patients/patientinfo/granulated-eyelids.htm
http://eyestrain.sabhlokcity.com/2011/09/meibomian-gland-disease-mgd/
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CT and MRI
http://www.ijri.org/articles/2012/22/3/images/IndianJRadiolImaging_2012_22_3_227_107184_u2.jpg
De Palma et al, 1998
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ECD and eyes overview
Erdheim-Chester Disease (ECD) ECD and Eyes Eyelid changes Orbital changes
Symptoms
Eye exam Overview
Other common eye problems
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Erdheim-Chester Disease (ECD) AKA Polyostotic Sclerosing Histiocytosis
Rare infiltrative non-Langerhans-cell histiocytosis Approximately 500 cases reported
Mean age of 53 years Wide range of systemic and ophthalmic
manifestations Bone, heart, lungs, orbits, central nervous
system (CNS), pituitary gland, and retroperitoneum
Bone involvement in most Osteosclerosis of the long bones most commonly,
followed by Neurologic symptoms, diabetes insipidus
secondary to pituitary gland involvement, etc. Xanthomatous infiltration of tissues by CD68-
positive, CD1a-/S100-negative foamy histiocytes surrounded by fibrosis Touton giant cells
Diamond 2014
Alexiou J1, Klastersky J2. Erdheim-Chester Disease: A Case Report. Am J Case Rep. 2015 Jun 11;16:361-6.
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Erdheim-Chester disease (ECD)
Orbital involvement in 27% Commonly bilateral Exophthalmos, orbital pain, motility
deficits, or vision change Orbital masses compressing the optic
nerve or the optic chiasm May affect lacrimal gland, muscles,
orbital fat May be resistant to medical treatment,
requiring surgical debulking Involvement of the eyelids or the
periorbital spaces in 18% Periorbital yellow xanthogranulomas
of skin may occur Involvement of structures within
the eye Choroid plexus
https://eyepathologist.com/disease.asp?IDNUM=304650
Diamond 2014
Clinical Findings
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Xanthelasma - skin manifestation
Most common cutaneous lesion occurring in one-third of patients
Yellow eyelid plaques Can also occur in face, neck,
axilla, trunk, and groin
Cholesterol-laden eyelid plaques
Spectrum of disease Unable to distinguish between
ECD and other diseases by skin lesions alone Lee HY1, Jin US, Minn KW, Park YO. Outcomes of
surgical management of xanthelasma palpebrarum.Arch Plast Surg. 2013 Jul;40(4):380-6.
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Xanthogranuloma
Infiltration by lipid-laden, foamy histiocytessurrounded by fibrosis
Sanz-Marco E1, España E2, López-Prats MJ3, Chirivella-Casanova M4, Aviño J3, Díaz-Llopis M5.Necrobiotic xanthogranuloma. Differential diagnosis, treatment and systemic involvement. Case report.Arch Soc Esp Oftalmol. 2014 May;89(5):186-9. doi: 10.1016/j.oftal.2012.11.007. Epub 2012 Dec 20.
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Orbital xanthogranuloma
4 types of orbital xanthogranuloma Necrobiotic xanthogranuloma (NBX) Adult onset xanthogranuloma (AOX) Asthma-associated adult periocular xanthogranuloma
(AAPOX) Erdheim–Chester disease (ECD)
Sanz-Marco E1, España E2, López-Prats MJ3, Chirivella-Casanova M4, Aviño J3, Díaz-Llopis M5.Necrobiotic xanthogranuloma. Differential diagnosis, treatment and systemic involvement. Case report.Arch Soc Esp Oftalmol. 2014 May;89(5):186-9. doi: 10.1016/j.oftal.2012.11.007. Epub 2012 Dec 20.
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Orbital xanthogranuloma
Orbital mass may cause Proptosis Pain Decreased motility of eye
Double vision From misalignment of
eyes Decreased vision
Central vision Visual field Color vision
Diamond 2014
http://www.healio.com/ophthalmology/cornea-external-disease/news/print/ocular-surgery-news/%7Beb94573b-23bc-4fea-9b56-7e464ee21163%7D/man-experiences-long-term-proptosis-of-left-eye
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Orbital lesions
Mass of the lesion can cause Extraocular motility
restriction Double vision from
eyes not aligning Compression on optic
nerve or blood supply of optic nerve Vision change
http://amaprod.silverchaircdn.com/data/Journals/OPHTH/10139/eld90036f2.png
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Variable presentation
Eyelid nodule Mild eyelid droop
Bita Esmaeli, MD
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Differential diagnosis
ECD related retro-orbital involvement may resemble Wegener’s granulomatosis Graves disease Langerhans cell histiocytosis Lymphoma Sarcoidosis Sjogren’s disease Idiopathic orbital inflammation
http://webeye.ophth.uiowa.edu/eyeforum/atlas/photos-earlier/pseudotumor.jpg
Leibovitch I, Prabhakaran VC, Davis G, Selva D. Intraorbital injection of triamcinolone acetonide in patients with idiopathic orbital inflammation. Arch Ophthalmol. 2007 Dec;125(12):1647-51.
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Treatment
Systemic treatment Recent discovery of BRAF mutations in up to 54% of patients
Led to treatment with BRAF inhibitors Interferon-a-2a and pegylated interferon-a Anticytokine directed therapy
Anakinra, infliximab, tocilizumab Serine/threonine kinase inhibitors: vemurafenib (inhibitor of BRAF harboring the V600E
mutation) and imatinib
Orbit specific treatment Steroids may reduce edema acutely, e.g. severe
exophthalmos Not considered effective monotherapy
Radiotherapy has been reported No response or short-term palliation with disease
progression within months Surgical debulking is limited in ECD to severe orbital
lesions or surgically resectable intracranial lesions
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Eye exam
Take the mystery out of the eye exam
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Clinic tests
Vision Visual acuity Double vision Color vision Visual fields
Pupils Extraocular motility Resistance to retropulsion Intraocular pressure External exam Slit-lamp exam Pupil dilation Posterior fundus exam
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Visual acuity
http://news.aapc.com/wp_aapc_content/uploads/2012/11/eye-chart-glasses.jpg
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Monocular vs binocular diplopia
http://www.stantonoptical.com/wp-content/uploads/2013/06/dip01.jpg
http://img.tfd.com/ElMill/thumb/F0D-04-S2958.jpg
https://arcolin4.files.wordpress.com/2013/03/figure-1.jpg
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Color vision testing
Ishihara color plates HRR color plates To evaluate if compromise of optic nerve
From compression on the nerve or vascular supply
http://cdn.lipstiq.com/wp-content/uploads/2010/10/color-vision-chart.jpg
https://encrypted-tbn0.gstatic.com/images?q=tbn:ANd9GcSKFWRyOk918BLypsUXCMjgRycX6qP7dTWvj85H-j2cd4AtlvXM
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Visual fields
To evaluate if compromise of optic nerve From compression on the nerve or
vascular supply For ptosis evaluation
http://www.nature.com/eye/journal/v18/n8/images/6701339f2.jpg
http://www.schwartzeyecare.com/user-files/Humphrey_Automated_Visual_Field.jpg
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Pupils
http://umem.org/files/uploads/1109281911_Marcus_Gunn_Pupil.jpg
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Extraocular motility
http://amaprod.silverchaircdn.com/data/Journals/OPHTH/10139/eld90036f2.png
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Resistance to retropulsion
http://www.djo.harvard.edu/files/2704_324.jpg
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Proptosis
Protrusion of the eye More obvious in some
views than others May be seen on CT and
MRI
http://www.healio.com/ophthalmology/cornea-external-disease/news/print/ocular-surgery-news/%7Beb94573b-23bc-4fea-9b56-7e464ee21163%7D/man-experiences-long-term-proptosis-of-left-eye
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Hertel’s exophthalmometry
Measure anterior extent of the cornea In relation to lateral
orbital rim
http://www.alpfmedical.info/visual-acuity/examination-methods-hke.html
http://www.oculist.net/others/ebook/generalophthal/vaughan/public/co_figures/ch002/ch2fg31.jpg
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Intraocular pressure
http://www.afb.org/image.asp?ImageID=6599 http://www.johnsonandfurze.co.uk/img/goldmannsmall.png
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Eyelids
http://s15.postimg.org/ki8j8n0yz/flippedeyelids.jpg
http://www.oculoplastics.co.uk/images/cha_9_large.jpg
http://img.medscapestatic.com/pi/meds/ckb/23/41323tn.jpg
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Pupil dilation
http://www.vailranchpharmacy.com/sites/default/files/Post_DialatedEyeExam.png
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Anterior and posterior exam
Slit-lamp exam Dilated posterior fundus
examhttp://www.riceoweek.com/wp-content/uploads/2013/01/5852878952_79da552c11_z.jpg
http://stanfordmedicine25.stanford.edu/Assets/Images/NormalRetina.gif
https://www.vrmagic.com/uploads/pics/eyesi_indirect_1_2_news_1.jpg
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Choroidal involvement
Posterior part of the eye Fundus exam Fundus photos Ultrasound Optical coherence
tomography (OCT) Fluorescein
angiography and indocyanine green
Abdellatief A, Mason CM, Ytterberg SR, Boorjian SA, Salomão DR, Pulido J. Choroidal Involvement in Erdheim-Chester Disease. Ophthalmic Surg Lasers Imaging Retina. 2015 Jun;46(6):674-6. doi: 10.3928/23258160-20150610-13.
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Macular edema
http://treatmydme.com/images/What-is-DME-image-large.jpg
http://amaprod.silverchaircdn.com/data/Journals/OPHTH/6910/eld80014f1.png
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Other common ophthalmic conditions
Not specific to ECD Dry eye syndrome Corneal abrasion Blepharitis Dermatochalasis Ptosis Orbital cellulitis Refractive error
Myopia Hyperopia
Presbyopia Cataract
https://pedclerk.bsd.uchicago.edu/sites/pedclerk.uchicago.edu/files/uploads/cornealabrasion_0.jpg
http://www.sightnation.com/files/36084_038.JPG
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Dry eye syndrome
Irritation Foreign body sensation Blurry vision Redness Sticky eyelid sensation in
morning Treat with Preservative free artificial tears,
gels, and ointments
Yoko Ogawa,a, Stella K. et al. International Chronic Ocular Graft-vs-Host-Disease (GVHD) Consensus Group: Proposed Diagnostic Criteria for Chronic GVHD (Part I). Sci Rep. 2013; 3: 3419. 2013 Dec 5.
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Blepharitis
Causes or exacerbates most cases of dry eye
http://www.mastereyeassociates.com/blepharitis
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Dermatochalasis and ptosis
Excess skin vs
True droop of eyelid
http://pediatricophthalmologypa.com/eye-library-5/droopy-eyelids-ptosis/
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Orbital cellulitis
Pre-septal vs post-septal
http://www.oculist.net/downaton502/prof/ebook/duanes/graphics/figures/v2/0340/005af.jpg
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Refractive error
http://www.visionexcellence.com.auhttp://melbourneeyecentre.com.au
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Presbyopia
Decreased or lost ability of lens to change shape and focus light Age related change
https://visionhelp.files.wordpress.com/2012/07/presbyopia2.jpg?w=300
http://www.christophersoneyeclinic.com/eyeclinic_wp/wp-content/uploads/eye_presbyopia_corrected.jpg
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Cataract
Clouding of the natural lens of the eye Can be bilateral and
asymmetric Age related lens change but
can worsen with medications Steroids
Cataract surgery Removal of the natural
cloudy lens Placement of an articifial
lens Very commonly performed
with excellent success rates
http://www.ijburns.com/articles/2014/22/1/images/IndianJBurns_2014_22_1_22_146997_f12.jpg
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Questions??
Thank you!
www.nasa.gov - Helix Nebula
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References
Esmaeli B, Ahmadi A, Tang R, Schiffman J, Kurzrock R. Interferon therapy for orbital infiltration secondary to Erdheim-Chester disease. Am J Ophthalmol. 2001 Dec;132(6):945-7.
Abdelfattah AM1, Arnaout K2, Tabbara IA. Erdheim-Chester disease: a comprehensive review. Anticancer Res. 2014 Jul;34(7):3257-61.
Cives M1, Simone V, Rizzo FM1, Dicuonzo F, Cristallo Lacalamita M, Ingravallo G, Silvestris F, Dammacco F. Erdheim-Chester disease: A systematic review. Crit Rev Oncol Hematol. 2015 Jul;95(1):1-11.
Diamond EL1, Dagna L, Hyman DM, Cavalli G, Janku F, Estrada-Veras J, Ferrarini M, Abdel-Wahab O, Heaney ML, Scheel PJ, Feeley NK, Ferrero E, McClain KL, Vaglio A, Colby T, Arnaud L, Haroche J. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014 Jul 24;124(4):483-92. doi: 10.1182/blood-2014-03-561381. Epub2014 May 21.
Mazor RD1, Manevich-Mazor M, Shoenfeld Y. Erdheim-Chester Disease: a comprehensive review of the literature. Orphanet J Rare Dis. 2013 Sep 8;8:137. doi: 10.1186/1750-1172-8-137.
Cruz AA1, de Alencar VM, Falcão MF, Elias J Jr, Chahud F. Association between Erdheim-Chester disease, Hashimoto thyroiditis, and familial thrombocytopenia. Ophthal Plast ReconstrSurg. 2006 Jan-Feb;22(1):60-2.
de Palma P, Ravalli L, Grisanti F, Rossi A, Marzola A, Nielsen I. Bilateral orbital involvement in Erdheim-Chester disease. Orbit. 1998 Jun;17(2):97-105.
Sivak-Callcott JA, Rootman J, Rasmussen SL, Nugent RA, White VA, Paridaens D, Currie Z, Rose G, Clark B, McNab AA, Buffam FV, Neigel JM, Kazim M. Adult xanthogranulomatous disease of the orbit and ocular adnexa: new immunohistochemical findings and clinical review. Br J Ophthalmol. 2006 May;90(5):602-8.
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References
Vick VL, Wilson MW, Fleming JC, Haik BG. Orbital and eyelid manifestations of xanthogranulomatous diseases. Orbit. 2006 Sep;25(3):221-5.
Aggarwal S, Jakobiec FA, Hamrah P. Bilateral adult epibulbar xanthogranulomas suspicious for Erdheim-Chester disease. Cornea. 2014 Oct;33(10):1113-7.
Beylergil V, Carrasquillo JA, Hyman DM, Diamond EL. Visualization of orbital involvement of Erdheim-Chester disease on PET/CT. Clin Nucl Med. 2014 Jul;39(7):660-1.
Smith JR, Rosenbaum JT. A role for methotrexate in the management of non-infectious orbital inflammatory disease. Br J Ophthalmol. 2001 Oct;85(10):1220-4.
Lau WW, Chan E, Chan CW. Orbital involvement in Erdheim-Chester disease. Hong Kong Med J. 2007 Jun;13(3):238-40.
Hills WL, Nassef AH, Grafe MR, Weissman JL, Moster SJ, Falardeau J, Mardekian SK, Curtis MT, Moster ML. Homonymous hemianopia due to Erdheim-Chester disease. J Neuroophthalmol. 2014 Sep;34(3):237-42.
Sivak-Callcott JA, Rootman J, Rasmussen SL, Nugent RA, White VA, Paridaens D, Currie Z, Rose G, Clark B, McNab AA, Buffam FV, Neigel JM, Kazim M. Adult xanthogranulomatousdisease of the orbit and ocular adnexa: new immunohistochemical findings and clinical review. Br J Ophthalmol. 2006 May;90(5):602-8.
Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, Wechsler J, Brun B, Remy M, Wallaert B, Petit H, Grimaldi A, Wechsler B, Godeau P. Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine (Baltimore). 1996 May;75(3):157-69.
Abdellatief A, Mason CM, Ytterberg SR, Boorjian SA, Salomão DR, Pulido J. Choroidal Involvement in Erdheim-Chester Disease. Ophthalmic Surg Lasers Imaging Retina. 2015 Jun;46(6):674-6. doi: 10.3928/23258160-20150610-13.