A female child with skin lesions and seizures : case report of incontinentia pigmenti

Abstract EN

Incontinentia Pigmenti (IP), (OMIM # 308300), is a rare X-linked dominant condition.

It is a multisystemic disease with neuroectodermal findings involving the skin, eyes, hair, nails, teeth, and central nervous system.

It is usually lethal in males ; the disease has variable expression in an affected female.

We report the case of a 6 month old girl who presented at Sultan Qaboos University Hospital, Oman, with neonatal seizures and hypopigemented / hyperpigmented skin lesions.

She had multiple ophthalmic abnormalities and neurological manifestations which are discussed in this report.