Incontinentia pigmenti is a condition that can affect many body systems, particularly the skin. This condition occurs much more often in females than in males.

Variants (also called mutations) in the IKBKG gene cause incontinentia pigmenti. The IKBKG gene  provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that helps protect cells from self-destructing (undergoing apoptosis) in response to certain signals.

Incontinentia pigmenti is estimated to affect 1.2 in 100,000 individuals worldwide. Between 900 and 1,200 affected individuals have been reported in the scientific literature. Most of the individuals affected are female, but several dozen males with incontinentia pigmenti have also been identified.

This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a variant in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of IKBKG protein, and other cells produce none. The resulting imbalance in cells producing this protein leads to the signs and symptoms of incontinentia pigmenti.

Published Date: March 13, 2023
Published By: National Institutes of Health