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A Female Child with Skin Lesions and Seizures: Case report of
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 affect...
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Published in: | Sultan Qaboos University medical journal 2009-06, Vol.9 (2), p.157-161 |
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creator | Al-Zuhaibi, Sana Ganesh, Anuradha Al-Waili, Ahmed Al-Azri, Faisal Javad, Hashim Al-Futaisi, Amna |
description | 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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(
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.</description><identifier>ISSN: 2075-051X</identifier><identifier>EISSN: 2075-0528</identifier><identifier>PMID: 21509293</identifier><language>eng</language><publisher>Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences</publisher><subject>Case Report</subject><ispartof>Sultan Qaboos University medical journal, 2009-06, Vol.9 (2), p.157-161</ispartof><rights>Copyright 2009, Sultan Qaboos University Medical Journal, All Rights Reserved</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3074784/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3074784/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,53791,53793</link.rule.ids></links><search><creatorcontrib>Al-Zuhaibi, Sana</creatorcontrib><creatorcontrib>Ganesh, Anuradha</creatorcontrib><creatorcontrib>Al-Waili, Ahmed</creatorcontrib><creatorcontrib>Al-Azri, Faisal</creatorcontrib><creatorcontrib>Javad, Hashim</creatorcontrib><creatorcontrib>Al-Futaisi, Amna</creatorcontrib><title>A Female Child with Skin Lesions and Seizures: Case report of</title><title>Sultan Qaboos University medical journal</title><description>Incontinentia Pigmenti
(
IP
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(
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.</abstract><pub>Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences</pub><pmid>21509293</pmid></addata></record> |
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title | A Female Child with Skin Lesions and Seizures: Case report of |
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