Incontinentia pigmenti

Abstract

Incontinentia pigmenti is an X-linked genodermatosis with a highly variable phenotypic expression of the IKBKG mutation. Skin manifestations develop shortly after birth, occur in four stages, and heal with limited residual lesions. Ophtalmologic and neurologic anomalies constitute the most serious complications. Most symptoms have a very early age of onset, except for nail anomalies that appear usually after puberty. An early diagnosis is crucial to allow for a strict follow-up protocol during childhood. Later in life, genetic advice concerning hereditary transmission is very important.