Retinoblastoma Presenting in a Child with Hypomelanosis of Ito
Tarek El-Sawy*, 1, §, Lingmin He 2, Michael F Chiang 1, †, Kwame Anyane-Yeboa 3, Kimberly D Morel 3, 4, Robert Folberg 5, Brian P Marr 6, David Abramson 6
Identifiers and Pagination:Year: 2011
First Page: 55
Last Page: 58
Publisher ID: TOOPHTJ-5-55
Article History:Received Date: 24/5/2011
Revision Received Date: 3/9/2011
Acceptance Date: 3/9/2011
Electronic publication date: 19/12/2011
Collection year: 2011
open-access license: This is an open access article licensed under the terms of the Creative Commons Attribution Non-Commercial License (http: //creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.
To describe a case of a child with a known history of pigmentary mosaicism suggestive of Hypomelanosis of Ito presenting with unilateral leukocoria, who was ultimately diagnosed with retinoblastoma.
A report of a 16-month-old girl with pigmentary mosaicism and unilateral retinoblastoma.
A previously healthy 16-month-old girl with a diagnosis of a mosaic hypopigmentation at the age of 6 months based on a linear and whorled pattern of skin hypopigmentation along the lines of Blaschko, presented with unilateral strabismus, leukocoria, retinal detachment, and sub-retinal exudation. Hypomelanosis of Ito and other similar neurocutaneous syndromes are known to be associated with abnormal retinal pigmentation, vascular abnormalities, and retinal detachment. Examination included a fluorescein angiogram, ultrasonography, and an MRI of the brain and orbits that demonstrated features consistent with retinoblastoma.
Given these findings and a flat electroretinogram, the eye was enucleated with final pathologic confirmation of retinoblastoma.
Previously unreported presentation of unilateral retinoblastoma in a child with pigmentary mosaicism.