TY - JOUR
T1 - A female child with skin lesions and seizures case report of Incontinentia Pigmenti
AU - Al-Zuhaibi, Sana
AU - Ganesh, Anuradha
AU - Al-Waili, Ahmed
AU - Al-Azri, Faisal
AU - Javad, Hashim
AU - Al-Futaisi, Amna
N1 - Publisher Copyright:
© 2009, Sultan Qaboos University. All rights reserved.
PY - 2009/8
Y1 - 2009/8
N2 - 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.
AB - 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.
KW - Case report
KW - Hypomelanosis of Ito
KW - Incontinentia Pigmenti (IP)
KW - Neurologic diseases
KW - Oman
KW - Ophthalmic
KW - Seizures
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M3 - Article
AN - SCOPUS:84923834201
SN - 2075-051X
VL - 9
SP - 157
EP - 161
JO - Sultan Qaboos University Medical Journal
JF - Sultan Qaboos University Medical Journal
IS - 2
ER -