Retinoblastoma presenting in a child with Hypomelanosis of Ito Journal Article
| Authors: | El-Sawy, T.; He, L.; Chiang, M. F.; Anyane-Yeboa, K.; Morel, K. D.; Folberg, R.; Marr, B. P.; Abramson, D. |
| Article Title: | Retinoblastoma presenting in a child with Hypomelanosis of Ito |
| Abstract: | Purpose: 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. Methods: A report of a 16-month-old girl with pigmentary mosaicism and unilateral retinoblastoma. Results: 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. Conclusions: Previously unreported presentation of unilateral retinoblastoma in a child with pigmentary mosaicism. © El-Sawy et al. |
| Keywords: | child; clinical feature; case report; nuclear magnetic resonance imaging; disease association; tumor volume; differential diagnosis; retinoblastoma; infant; enucleation; retina detachment; tumor vascularization; patient referral; electroretinogram; mosaicism; tumor calcinosis; eye injury; b scan; hypomelanosis of ito; incontinentia pigmenti; retina fluorescein angiography |
| Journal Title: | Open Dermatology Journal |
| Volume: | 5 |
| ISSN: | 1874-3722 |
| Publisher: | Bentham Science Publishers |
| Date Published: | 2011-01-01 |
| Start Page: | 55 |
| End Page: | 58 |
| Language: | English |
| DOI: | 10.2174/1874364101105010055 |
| PROVIDER: | scopus |
| PMCID: | PMC3249652 |
| PUBMED: | 22216075 |
| DOI/URL: | |
| Notes: | --- - "Export Date: 1 March 2012" - "Source: Scopus" |
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