Incontinentia pigmenti (IP) is a rare neurocutaneous dysplasia caused by a mutation in the IKBKG/NEMO gene on chromosome X. This disorder has an incidence of around 1.2 cases per 100,000 births. Due to its X-linked genetics, the disorder is usually lethal for males in utero. The disorder is a disease that affects ectodermal tissue, including the CNS, skin, eyes, hair, and teeth. Skin lesions are seen in 4 stages: blistering vesicles, verrucous linear plaques, swirling hyperpigmentation, and linear hypopigmentation. These lesions develop along the distribution of Blaschko lines, which are pathways of embryonic epidermal cell migration and proliferation. 

In this case report, we present a 6-week-old female neonate who presented with an erythematous rash on her upper and lower limbs 5 days after birth. She was first treated with clindamycin and acyclovir due to a presumptive diagnosis of neonatal herpes simplex virus (HSV). The rash did not approve after empiric antibiotic trial, and the patient was readmitted one month later with the vesicular lesions now spread to her abdomen and scalp. The next morning the patient had a seizure-like episode. Pediatric neurologist raised the suspicion of IP. 

MRI depicted white matter lesions which were demonstrative of findings consistent with IP. EEG demonstrated recurrent seizures arising from both hemispheres. Patient was started on Briviact, and later, Phenobarbital. Patient’s rash subsequently improved, and she was referred for genetic testing. Two months later, the patient developed infantile spasms which resolved within two days of increasing Briviact to 20 mg BID and after completing a prednisone taper.

Incontinentia Pigmenti warrants a heightened awareness from the healthcare field due to its potential for severe complications. If providers are more aware of IP, then it will lead to quicker and more accurate diagnoses of IP before the onset of seizures and neurological impairment.