Drugs Information Online
Drugs and diseases reference index

Drugs and diseases reference index
Search
EN

Definition of «Syndrome, incontinentia pigmenti»

Syndrome, incontinentia pigmentiSyndrome, incontinentia pigmentiSyndrome, incontinentia pigmentiSyndrome, incontinentia pigmenti

Syndrome, 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.

IP is also known as Bloch-Sulzberger syndrome.

For More Information «Syndrome, incontinentia pigmenti»

Comment «Syndrome, incontinentia pigmenti»