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SQUMJ-Sultan Qaboos University Medical Journal. 2009; 9 (2): 157-161
em Inglês | IMEMR | ID: emr-102090

RESUMO

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


Assuntos
Humanos , Feminino , Espasmos Infantis/etiologia , Transtornos da Pigmentação/etiologia , Doenças Genéticas Ligadas ao Cromossomo X , Manifestações Neurológicas , Criança , Convulsões , Dermatopatias
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