Dermatológia pre prax 3/2016
Incontinentia pigmenti (Bloch-Sulzberger syndróm) – case report
We report a girl with rare genetic disorder Incontinentia pigmenti. The diagnosis was based on clinical picture of skin lesions which appeared in first days after birth. Ophthalmological and neurological examination should always be done as soon as possible, because severe impairment of eyes and CNS is frequent. In our case ophthalmologic complications appeared, but at the age of 6 years her vision is not affected. Genetic examination revealed causal mutation - deletion of exons 4-10 of IKBKG gene. Genetic test in mother was negative.
Keywords: Incontinentia pigmenti, clinical features, genetics
