Title of article :
A Female Child with Skin Lesions and Seizures: Case report of Incontinentia Pigmenti
Author/Authors :
Al-Zuhaibi, Sana Sultan Qaboos University Hospital - Departments of Ophthalmology, Oman , Ganesh, Anuradha Sultan Qaboos University Hospital - Departments of Ophthalmology, Oman , Al-Waili, Ahmed Sultan Qaboos University Hospital - Departments of Child Health, Oman , Al-Azri, Faisal Sultan Qaboos University Hospital - Departments of Radiology Molecular Imaging, Oman , Javad, Hashim Sultan Qaboos University Hospital - Departments of Child Health, Oman , Al-Futaisi, Amna Sultan Qaboos University Hospital - Departments of Child Health, Oman
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
Keywords :
Incontinentia Pigmenti (IP) , Seizures , Ophthalmic , Hypomelanosis of Ito , Neurologic diseases , Case report , Oman
Journal title :
Sultan Qaboos University Medical Journal (SQUMJ)
Journal title :
Sultan Qaboos University Medical Journal (SQUMJ)
