Sultan Qaboos University Medical Journal (Aug 2009)

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

  • Sana Al-Zuhaibi,
  • Anuradha Ganesh,
  • Ahmed Al-Waili,
  • Faisal Al-Azri,
  • Hashim Javad,
  • Amna Al-Futaisi

Journal volume & issue
Vol. 9, no. 2
pp. 157 – 161

Abstract

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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.

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