Incontinentia Pigmenti-A Case Report

Abstract

Purpose: To report a newborn with linear streak of erythematous vesiculae or pustules on the trunk and the limbs at birth. She was later diagnosed as incontinentia pigmenti. Early ocular examination is necessary to prevent possible retinopathy. Methods: Case report. Results: A full term newborn girl born with linear streak of erythematous vesiculae or pustules on the trunk and the limbs. Incontinentia pigmenti was highly suspected. Testing for TORCH, skin biopsy, neurological assessment and brain ultrasound were unremarkable. However, magnetic resonance imaging demonstrated multiple small infarction and cavitation over bilateral white matter. Ophthalmologic examination revealed foveal hypoplasia of retinal pigment epithelium and retinal vascular abnormalities in her left eye. Incontinentia pigmenti was further confirmed by molecular analysis (NEMO gene mutation). The retinal findings were similar to those with retinopathy of prematurity. Early indirect ophthalmoscopic laser photocoagulation was carried out to prevent progressive retinopathy. Conclusion: An ophthalmologist should examine infants with a suspect of IP with caution. When retinal findings were similar to those with retinopathy of prematurity, early indirect ophthalmoscopic laser photocoagulation is indicated to prevent progressive retinopathy and possible tractional retinal detachment.