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*

*المؤلف المقابل لهذا العمل

نتاج البحث: المساهمة في مجلةمراجعة النظراء

1 اقتباس (Scopus)

ملخص

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.

اللغة الأصليةEnglish
الصفحات (من إلى)157-161
عدد الصفحات5
دوريةSultan Qaboos University Medical Journal
مستوى الصوت9
رقم الإصدار2
حالة النشرPublished - أغسطس 2009

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