Multifocal hypopigmented retinal pigment epithelial lesions in incontinentia pigmenti

Incontinentia pigmenti (IP) can manifest with retinal detachment in children and can simulate retinoblastoma. The authors report a clinicopathologic correlation of IP and illustrate the retinal pigment epithelium (RPE) alterations that may be useful in establishing the diagnosis.

A 30-month-old reportedly healthy girl developed strabismus and was discovered to have total retinal detachment in the left eye. Intraocular calcification was found on ultrasonography and computed tomography, suggestive of retinoblastoma.

Ophthalmoscopy of the right eye revealed sector distribution of approximately 70 elongated, linear hypopigmented lesions of the RPE located in the peripheral superotemporal, inferotemporal, and superonasal quadrants and measuring 300 microm or less in basal dimension. The left eye had a total retinal detachment, vitreous traction, perivascular exudation, and iris neovascularization. Despite the lack of medical history in this patient, skin examination revealed classic cutaneous findings of IP The enucleated left globe displayed tractional retinal detachment with vitreoretinal neovascularization and nonspecific RPE papillary proliferation. Scattered minor foci of intraretinal calcification were observed. There was no sign of retinoblastoma.

IP can closely simulate retinoblastoma with retinal detachment and minor intraocular calcification. In this case, the classic cutaneous manifestations combined with the fine linear hypopigmented RPE foci were important in suggesting the diagnosis of IP.