A Female Child with Skin Lesions and Seizures: Case report of Incontinentia Pigmenti

Sultan Qaboos Univ Med J. 2009 Aug;9(2):157-61. Epub 2009 Jun 30.

Abstract

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.

Keywords: Case report; Hypomelanosis of Ito; Incontinentia Pigmenti (IP); Neurologic diseases; Oman; Ophthalmic; Seizures.