index case

index case A person who first draws attention to his or her family because of having a medical condition. For example, if an eye doctor discovers a person has glaucoma, and subsequently other cases of glaucoma are found in the person’s family, that person is the index case. Also known as propositus (if male) or…

incontinentia pigmenti Definition & Meaning

incontinentia pigmenti One of the genetic diseases known as neurocutaneous disorders, which cause characteristic patterns of discolored skin and also involve the brain, eyes, nails, and hair. The disease is caused by the genomic rearrangement of the gene for NEMO, or nuclear factor kappa B essential modulator (IKBKG-IKK gamma). Symptoms include discolored skin that appears…