< b>Incontinentia pigmenti: A genetic disease that begins soon after birth
with the development of blisters on the trunk and limbs. These blisters then heal,
but leave dark hyperpigmented streaks and marble-like whorls on the skin. Other
key features include dental and nail abnormalities, bald patches and, in about one-third
of cases, mental retardation.
Incontinentia pigmenti (IP) is inherited as an X-linked dominant trait. The gene
for IP is called IKBKG. A girl with IP has inherited the IKBKG mutation from a parent
or has a new IKBKG mutation. IP is lethal in most, but not all, males. Mothers with
IP have an equal chance of having a normal son, a normal daughter, and an IP daughter.
Females with IP have nonrandom X-chromosome inactivation. Normally, one X chromosome
in each cell of a female is randomly inactivated. In females with certain X-linked
conditions, including IP, the X chromosome with the mutant allele is preferentially
inactivated. This phenomenon is termed non-random (or skewed) X-chromosome inactivation.
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