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

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.

SUBMITTER: Al-Zuhaibi S

PROVIDER: S-EPMC3074784 | biostudies-literature | 2009 Aug

REPOSITORIES: biostudies-literature

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

Al-Zuhaibi Sana S Ganesh Anuradha A Al-Waili Ahmed A Al-Azri Faisal F Javad Hashim H Al-Futaisi Amna A

Sultan Qaboos University medical journal 20090630 2

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 opht ...[more]

PMID: 21509293

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