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Choroidal mass as the first presentation of Erdheim-Chester disease

PURPOSE: To describe a choroidal mass that proved to be histiocytic choroidal infiltration in Erdheim-Chester disease. OBSERVATIONS: A 54-years-old Caucasian male presented to our Retina Clinic with a suspect of choroidal melanoma in the left eye. Dilated fundus exam of the left eye showed a yellow-...

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Autor principal: Pichi, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706652/
https://www.ncbi.nlm.nih.gov/pubmed/31463417
http://dx.doi.org/10.1016/j.ajoc.2019.100539
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author Pichi, Francesco
author_facet Pichi, Francesco
author_sort Pichi, Francesco
collection PubMed
description PURPOSE: To describe a choroidal mass that proved to be histiocytic choroidal infiltration in Erdheim-Chester disease. OBSERVATIONS: A 54-years-old Caucasian male presented to our Retina Clinic with a suspect of choroidal melanoma in the left eye. Dilated fundus exam of the left eye showed a yellow-grey lesion along the inferior arcade, with sub-retinal fluid clinically visible. Enhanced depth imaging-OCT (EDI-OCT) showed a dome-shaped choroidal lesion with hyperreflective exudation present between the inner retina and the retinal pigment epithelium (RPE). On fundus autofluorescence the lesion appeared to have a diffuse speckled hyper-autofluorescent pattern secondary to the exudative subretinal material. On ultrasound, the lesion appeared hyper-echoic and dome-shaped, with a baseline thickness of 6.13 mm. Indocyanine green angiography (ICGA) was performed and showed hypocyanescence of the lesion from the early phases that persisted through the whole exam. Chest CT with contrast showed an abnormal, non-calcific, eccentric thickening of segments of the aorta (“coated aorta”) and PET an abnormally strong labeling of the distal ends of the long bones. An additional proximal tibial biopsy was performed to confirm the diagnosis on histology of Erdheim-Chester disease and the patient was started on oral prednisone. The choroidal mass progressively shrunk and the subretinal exudative material on top partially reabsorbed. CONCLUSIONS AND IMPORTANCE: Intraocular involvement in Erdheim-Chester disease is extremely rare but as a result of recent better awareness the number of new diagnosis is increasing. Erdheim-Chester disease should be considered in the differential of every choroidal mass.
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spelling pubmed-67066522019-08-28 Choroidal mass as the first presentation of Erdheim-Chester disease Pichi, Francesco Am J Ophthalmol Case Rep Case Report PURPOSE: To describe a choroidal mass that proved to be histiocytic choroidal infiltration in Erdheim-Chester disease. OBSERVATIONS: A 54-years-old Caucasian male presented to our Retina Clinic with a suspect of choroidal melanoma in the left eye. Dilated fundus exam of the left eye showed a yellow-grey lesion along the inferior arcade, with sub-retinal fluid clinically visible. Enhanced depth imaging-OCT (EDI-OCT) showed a dome-shaped choroidal lesion with hyperreflective exudation present between the inner retina and the retinal pigment epithelium (RPE). On fundus autofluorescence the lesion appeared to have a diffuse speckled hyper-autofluorescent pattern secondary to the exudative subretinal material. On ultrasound, the lesion appeared hyper-echoic and dome-shaped, with a baseline thickness of 6.13 mm. Indocyanine green angiography (ICGA) was performed and showed hypocyanescence of the lesion from the early phases that persisted through the whole exam. Chest CT with contrast showed an abnormal, non-calcific, eccentric thickening of segments of the aorta (“coated aorta”) and PET an abnormally strong labeling of the distal ends of the long bones. An additional proximal tibial biopsy was performed to confirm the diagnosis on histology of Erdheim-Chester disease and the patient was started on oral prednisone. The choroidal mass progressively shrunk and the subretinal exudative material on top partially reabsorbed. CONCLUSIONS AND IMPORTANCE: Intraocular involvement in Erdheim-Chester disease is extremely rare but as a result of recent better awareness the number of new diagnosis is increasing. Erdheim-Chester disease should be considered in the differential of every choroidal mass. Elsevier 2019-08-09 /pmc/articles/PMC6706652/ /pubmed/31463417 http://dx.doi.org/10.1016/j.ajoc.2019.100539 Text en © 2019 The Author http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Pichi, Francesco
Choroidal mass as the first presentation of Erdheim-Chester disease
title Choroidal mass as the first presentation of Erdheim-Chester disease
title_full Choroidal mass as the first presentation of Erdheim-Chester disease
title_fullStr Choroidal mass as the first presentation of Erdheim-Chester disease
title_full_unstemmed Choroidal mass as the first presentation of Erdheim-Chester disease
title_short Choroidal mass as the first presentation of Erdheim-Chester disease
title_sort choroidal mass as the first presentation of erdheim-chester disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706652/
https://www.ncbi.nlm.nih.gov/pubmed/31463417
http://dx.doi.org/10.1016/j.ajoc.2019.100539
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