학술논문
A RARE CASE OF INCONTINENTIA PIGMENTI WITH SEVERE EXTRACUTANEOUS MANIFESTATIONS.
Document Type
Article
Author
Source
Subject
*INCONTINENTIA pigmenti
*NEONATAL diseases
*OCULAR manifestations of general diseases
*X-linked genetic disorders
*PRENATAL diagnosis
*NEUROLOGY
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Language
ISSN
2360-4557
Abstract
Incontinentia pigmenti (IP) is a complex genodermatosis inherited in an X-linked dominant pattern, associating multistadial cutaneous manifestations with an oculo-dento-cerebral syndrome, which affects only female newborns, as the disorder is lethal in males since intrauterine period. We report on a case of incontinentia pigmenti with an atypical debut consisting of tonic-clonic seizures which had started during the first days of life, associated with severe ocular and neurologic manifestations. The presence and severity of extra-cutaneous features most often command the evolution and the prognosis of the disease. [ABSTRACT FROM AUTHOR]