What does IP mean in PEDIATRIC

IP is caused by changes or mutations in the IKBKG gene which provides instructions for making a protein called inhibitor of kappa light polypeptide gene enhancer in B-cells. It helps control DNA expression and cell growth.

Symptoms vary depending on the severity but can include abnormal skin coloring, such as patches of dark-colored or white skin; birthmarks consisting of wavy lines over parts of the body; alopecia, which is hair loss; teeth abnormalities like missing teeth or discolored teeth; eye problems such as inflammation and blindness; seizures; developmental delays and/or intellectual disabilities; and problems with movement or coordination.

IP can be diagnosed through a physical exam, family history and genetic testing. During a physical exam, a doctor may notice symptoms such as skin changes or birthmarks that suggest a diagnosis of IP. In addition, if there are other people in the family with the condition, this can help to make a diagnosis as well. Genetic testing can also be done to look for mutations in the IKBKG gene.

There is no cure for IP at this time but there are treatments available that can help manage some of the symptoms associated with it. Treatment options may include hormone therapy to treat alopecia and vitamin D supplementation for bone health, physiotherapy for coordination improvement exercises, medications for seizures and more.

Yes, IP is typically inherited from mother to daughter as it is an X-linked disorder linked to mutations on one of the two copies of the X chromosome that males inherit from their mother. In some cases though males can be affected if both copies have mutations or if there has been a spontaneous mutation during conception which affects both copies of the X chromosome within one person's cells resulting in male offspring being born with IP.