Document Type

Article

Publication Date

9-18-2017

Comments

This article has been peer reviewed. It is the author’s final published version in International Journal of Retina and Vitreous, Volume 3, Issue 1, September 2017, Article number 34.

The published version is available at https://doi.org/10.1186/s40942-017-0088-5. Copyright © Weiss et al.

Abstract

BACKGROUND: Incontinentia pigmenti is a rare X-linked dominant syndrome caused by mutation in the NEMO/IKKgamma gene, and characterized by a spectrum of cutaneous, ocular, neurologic and dental abnormalities. In the eye, findings include retinal vascular non-perfusion, occasionally with traction retinal detachment, retinal fibrosis, and retinal pigment epithelium defects. These findings can resemble retinoblastoma, especially when vitreoretinal fibrosis produces leukocoria.

CASE REPORT: A 2-month-old girl born full-term presented with leukocoria, suspicious for retinoblastoma. She was found to have an ischemic retrolental fibrovascular retinal detachment. In addition, there was linear cutaneous hyperpigmentation, diagnostic of incontinentia pigmenti.

CONCLUSIONS: Retinoblastoma can be a challenge to diagnose. There are numerous simulating lesions that can present with leukocoria and retinal detachment, including incontinentia pigmenti. Recognition of the cutaneous features of incontinentia pigmenti contributes to early detection of related ophthalmologic, neurologic and dental abnormalities.

Creative Commons License

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.

PubMed ID

28932485

Language

English

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