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IJCN-Iranian Journal of Child Neurology. 2010; 4 (4): 43-46
em Inglês | IMEMR | ID: emr-129698

RESUMO

Incontinentia Pigmenti [IP] [Bloch_Sulzberg syndrome] is a rare neurocutaneous syndrome characterized by multisystemic involvement that is prenatally lethal in the majority of affected males and shows great clinical variability when expressed in women. The diagnosis of IP is performed based on clinical features and the family history with the support of histological findings. We report a 10-day-old female neonate with typical skin lesions and frequent seizure. Skin biopsy showed second stage IP


Assuntos
Humanos , Feminino , Incontinência Pigmentar/genética , Síndromes Neurocutâneas
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