Definition:
Incontinentia Pigmenti (IP) is a genetic disorder that affects the skin, hair, nails and teeth. It is also called Bloch Sulzberger syndrome, Bloch Siemens syndrome, melanoblastosis cutis and naevus pigmentosus systematicus.
Diagnosis:
The diagnosis of IP is done by clinical findings and occasionally by corroborative skin biopsy. Molecular genetic testing of the IKBKG gene (chromosomal locus Xq28) shows disease-causing mutations in about 80% of probands. Such testing is found clinically. Additionally, females with IP have skewed X-chromosome inactivation; testing for this can be used to support the diagnosis.
Treatment:
The treatment for babies with incontinentia pigmenti should be concentrated on the potential for the rapid development of irreversible blindness rather than on the obvious skin changes. If the ophthalmologist finds retinal abnormalities prior to the development of retinal detachment or bleeding, laser or other surgical procedures can be done to prevent visual loss. In addition, if retinal detachment is found early, surgical intervention can help preserve the person's vision.
Symptoms and Signs:
Eye abnormalities are found in about one-third of all people with incontinentia pigmenti (IP). They include disorders of the lens, retina, optic nerve, and muscles of the eyes. An estimated one-third of girls with IP have a turned eye.
Causes:
Most of IP cases are caused by a deletion in the NEMO gene. An estimated one half of all cases are spontaneous mutations. Most of the new mutations arise in the germline cells in the father's gonads.
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
