Incontinentia pigmenti

Incontinentia pigmenti, known as Bloch-Sulzberger disease, is a rare genetic disorder with an incidence of about 1 in 40000 newborns. The first cases were reported by dermatologists Bruno Bloch in 1926 and Marion Sulzberger in 1928. Incontinentia pigmenti occurs by inactivating a dominant X-linked IKBKG (NEMO) gene responsible for the regulation of the Kappa B nuclear factor. The Kappa B nuclear factor complex is responsible for protecting cells against self-destruction. Affected tissues are those with ectodermal origin: teeth, hair, eyes, central nervous system. For the male fetus, spontaneous abortion occurs most often. Feminine newborn babies may be healthy or manifest. We present a case of incontinentia pigmenti in a newborn female with skin and neurological manifestations from birth.