Abstract
BackgroundIncontinentia 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 reportA 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.ConclusionsRetinoblastoma 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.
Highlights
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
There are numerous simulating lesions that can present with leukocoria and retinal detachment, including incontinentia pigmenti
The pathogenesis of Incontinentia pigmenti (IP) is attributed to a mutation in the NEMO/IKKgamma gene located at the Xq28 loci, which leads to the activation of eotaxin which stimulates accumulation of eosinophils in tissue [1,2,3,4,5]
Summary
Retinoblastoma can be a challenge to diagnose. There are numerous simulating lesions that can present with leukocoria and retinal detachment, including incontinentia pigmenti.
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