Incontinentia Pigmenti with Extensive Brain Infarction in a Newborn

ABSTRACT

Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal multisystemic disorder with characteristic skin lesions. In addition to skin lesions, the teeth, nails, hair, eyes, and central nervous system are involved. Central nervous system involvement in the neonatal period may cause intellectual disabilities, severe neurologic impairment, or death. IP is associated with mutations in the NF-kappa B essential modulator gene located on chromosome Xq28 and is most commonly seen in female patients. We experienced one case of a newborn with multiple vesiculobullous skin lesions over the entire body after birth and partial seizures with secondary generalization. The brain magnetic resonance imaging showed extensive cerebral infarction, and retinal hemorrhage was observed in the fundus examination. The patient was clinically diagnosed with incontinentia pigmenti.