SW Huang, CF Hu, CC Wang, SJ Chen

Abstract

Incontinentia pigmenti (IP) is a rare, multisystemic X-linked disorder. It mainly affects females, and rarely affected men survive. It is characterised by evolving abnormalities of the skin and other organs, including central nervous system (CNS) anomalies that may be associated with seizures, motor impairment, and intellectual insufficiency. We describe an 8-year-old girl who presented with skin manifestations of IP at 3 months and seizures from 1 year of age but without mention of IP. Subsequently, her skin lesions evolved typically and seizures became frequently. Brain magnetic resonance imaging revealed frontoparietal encephalomalacia. Genetic testing showed a c.520-523dupCAGG mutation on exon 5, which was found in some other Taiwanese patients with IP. Remarkably, the patient's overall development was normal, with no signs of intellectual insufficiency or deterioration, despite encephalomalacia. Our findings suggest that brain destruction of IP can develop even antenatally and seizure can attack after then. Nevertheless, further studies are needed for precise mechanism of CNS anomalies in IP.