Incontinentia pigmenti. Sequencing of the IKBKG gene by Sanger [1 gene]

Incontinentia pigmenti is a disease that affects the skin, hair, teeth, nails, eyes, and central nervous system. As it is an inheritance linked to the dominant X chromosome, it occurs mainly in women and only occasionally in men. Characteristic skin lesions evolve through four stages:

1. Blisters (birth-4 months old).
2. Warty rash (several months after birth).
3. Swirl macular hyperpigmentation (from 6 months old to adulthood).
4. Linear hypopigmentation.

In addition, the involvement of the other named territories consists of alopecia, hypodontia, dystrophic nails, and neovascularization of the retina. Likewise, seizures and intellectual disability are occasionally observed.

1 / 143,000 newborns.

The most common cause of the disease is a large deletion (11.7Kb) between exons 4 and 10 of the IKBKG gene, which can be considered the indicated initial test when the clinical diagnosis needs to be confirmed with a genetic study.

High clinical suspicion that the patient suffers from the disease.

Estimated at 65% when the clinical diagnosis is certain.