Incontinentia Pigmenti (Bloch-Sulzberger Syndrome): A Case Report and the Review of the Literature

Abstract

Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare, multisystemic, genetic disease of the skin, hair, teeth and central nervous system, which is inherited as an X-linked dominant trait. It is classified as sporadic incontinentia pigmenti (IP1) and familial incontinentia pigmenti (IP2). Here, a case of an eleven years old girl with sporadic incontinentia pigmenti and catamenial epilepsy whose seizures are controlled with acetazolamide addition to the oxcarbazepine and lamotrigine combination, is presented, and is given a brief review of the literature in incontinentia pigmenti.