Incontinentia pigmenti

Incontinentia pigmenti is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system, and is named for its appearance under a microscope. It is marked by skin abnormalities that begin in childhood, usually a blistering rash that heals and is followed by harder skin growths, and grey or brown patches that fade with time. Other features can include hair loss, dental and eye abnormalities that may lead to vision loss, and lined or pitted nails. Associated problems include delayed development, intellectual disability and seizures, and most affected males do not survive to birth. It is caused by a mutation in the IKBKG gene, which encodes the NEMO protein that protects cells from TNF-alpha-induced apoptosis. There is no specific treatment, and individual problems are managed by specialists.