Dataset Information

Choroidal mass as the first presentation of Erdheim-Chester disease.

ABSTRACT:

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.

SUBMITTER: Pichi F

PROVIDER: S-EPMC6706652 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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Publications

Choroidal mass as the first presentation of Erdheim-Chester disease.

Pichi Francesco F

American journal of ophthalmology case reports 20190809

<h4>Purpose</h4>To describe a choroidal mass that proved to be histiocytic choroidal infiltration in Erdheim-Chester disease.<h4>Observations</h4>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 ...[more]

PMID: 31463417

Similar Datasets

Project description:ImportanceErdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis affecting multiple organs and commonly caused by somatic pathogenic variants in BRAF V600E and mitogen-activated protein kinase genes. Clinical features of ECD result from histiocytic involvement of various tissues; while endocrine involvement in ECD occurs frequently, the prevalence of central or primary hypothyroidism has not been thoroughly investigated.ObjectiveTo assess hypothalamus-pituitary-thyroid (HPT) dysfunction in patients with ECD.Design, setting, and participantsThis cross-sectional study included 61 patients with ECD who were enrolled in a natural history study at a tertiary care center between January 2011 and December 2018. ECD was diagnosed on the basis of clinical, genetic, and histopathological features. Data were analyzed in March 2020.ExposureDiagnosis of ECD.Main outcomes and measuresMain outcome was the prevalence of thyroid dysfunction in adults with ECD compared with community estimates. Patients underwent baseline evaluation with a thyroid function test, including thyrotropin, free thyroxine (fT4), and total thyroxine (T4), and sellar imaging with magnetic resonance imaging or computed tomography scan. The association of HPT dysfunction was assessed for differences in age, sex, body mass index, BRAF V600E status, high sensitivity C-reactive protein level, sellar imaging, and pituitary hormonal dysfunction.ResultsA total of 61 patients with ECD (46 [75%] men; mean [SD] age, 54.3 [10.9] years) were evaluated. Seventeen patients (28%) had hypothyroidism requiring levothyroxine therapy. The prevalence of both central and primary hypothyroidism were higher than community estimates (central hypothyroidism: 9.8% vs 0.1%; odds ratio, 109.0; 95% CI, 37.4-260.6; P < .001; primary hypothyroidism: 18.0% vs 4.7%; OR, 4.4; 95% CI, 2.1-8.7; P < .001). Patients with hypothyroidism (both primary and central), compared with patients with euthyroidism, had higher body mass index (median [interquartile range] 31.4 [28.3-38.3] vs 26.7 [24.4-31.9]; P = .004) and a higher prevalence of panhypopituitarism (7 [47%] vs 3 [7%]; P < .001). Among patients with hypothyroidism, those with central hypothyroidism, compared with patients with primary hypothyroidism, had a lower mean (SD) body mass index (28.3 [2.6] vs 36.3 [5.9]; P = .007) and higher frequencies of abnormal sellar imaging (5 [83%] vs 3 [27%]; P = .050) and panhypopituitarism (5 [83%] vs 3 [27%]; P = .050).Conclusions and relevanceIn this cohort study, a higher prevalence of central and primary hypothyroidism was identified in patients with ECD compared with the community. There should be a low threshold for testing for hypothyroidism in patients with ECD, and treatment should follow standard guidelines.

Dataset Information

Choroidal mass as the first presentation of Erdheim-Chester disease.

Purpose

Observations

Conclusions and importance

Publications

Choroidal mass as the first presentation of Erdheim-Chester disease.

Similar Datasets

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