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glossary:incontinentia_pigmenti [2012/10/16 14:40] (current)
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 + A [[genetic]] [[disease]] that begins soon after birth with the development of [[blister]]s 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.
glossary/incontinentia_pigmenti.txt ยท Last modified: 2012/10/16 14:40 (external edit)