Incontinentia pigmenti in a child with suspected retinoblastoma

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.

Keywords: Bloch–Sulzberger syndrome; Eye; Incontinentia pigmenti; Pseudoretinoblastoma; Retinal detachment; Retinoblastoma.

Fig. 1

Clinical features of incontinentia pigmenti. A 2-month-old Asian Indian female was found at 6 weeks of age to have leukocoria of the right eye (a) with a normal appearing left eye (b). Fundus examination of the right eye revealed a tractional retinal detachment (c) behind the lens, dragging the pars plicata inward and producing vitreous hemorrhage inferiorly. The left fundus (d) was normal. Fluorescein angiography of the right eye (e) revealed marked hyperfluorescence with diffuse leakage suggestive of neovascularization and the left eye (f) was healthy with normal perfusion. (g) Involuting cutaneous vesicular lesions and (h) linear hyperpigmentation (lines of Blaschko) were consistent with incontinentia pigmenti