Incontinentia pigmenti

Disease Overview

Incontinentia pigmenti (IP) is a genetic condition that affects the skin and other body systems. Skin symptoms change with time and begin with a blistering rash in infancy, followed by wart-like skin growths. The growths become swirled grey or brown patches in childhood, and then swirled light patches in adulthood. Other signs and symptoms may include hair loss, small or missing teeth, eye abnormalities that can lead to vision loss, and lined or pitted nails. Most people with IP have normal intelligence, but some have developmental delay, intellectual disability, seizures, and/or other neurological problems. IP is caused by mutations in the IKBKG gene and is inherited in an X-linked dominant manner.[3308]

Synonyms

• IP
• Incontinentia pigmenti, familial male-lethal type
• Bloch-Sulzberger syndrome
• Incontinentia pigmenti type 2 (formerly)
• IP2 (formerly)