Doctor's Notes on Incontinentia Pigmenti
Incontinentia pigmenti (IP or Bloch-Sulzberger syndrome) is an unusual inherited disorder of skin pigmentation that is associated with abnormalities of the skin, teeth, bones, brain, the spinal cord, and eyes. Signs and symptoms may occur first at birth with a characteristic rash that may blister. Most newborns are diagnosed at birth. Skin may develop grey or brown patches. About 33% of girls will have a turned eye. Others may have other abnormalities like retinal disorders, seizures, dental and bone abnormalities, and intellectual disability.
The cause of Incontinentia pigmenti is genetic. It is an X-linked dominantly inherited disease that is usually lethal in males. Females survive birth due to the presence of two X chromosomes where the undamaged one tries to compensate for the other damaged X chromosome.
What Are the Treatments for Incontinentia Pigmenti?
There is no known cure for IP. However, reduction of symptoms and supportive care can be done. This short introduction article cannot cover each of the various treatment protocols based on symptoms found in various organ systems. IP patients should be treated by a team of genetic specialists in the following areas:
- Skin and hair
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Rash (Causes, Types, and Cures)A rash is a visible skin outbreak. Examples of noninfectious rashes include eczema, psoriasis, contact dermatitis, seborrheic dermatitis, rosacea, hives, and allergic dermatitis. Types of infectious rashes include ringworm, impetigo, scabies, herpes, chickenpox, and shingles. Rashes may be caused by fungi, viruses, bacteria, and parasites. Treatment depends upon the type of rash.
Seizures EmergenciesSeizures refer to uncontrolled electrical activity in the brain. Symptoms of seizures range from mild to severe and can lead to death. A number of factors can lead to seizures, including brain tumor, injury, and fever. Emergency treatment for seizures can include antiseizure medications to help prevent seizures emergencies.
Kasper, D.L., et al., eds. Harrison's Principles of Internal Medicine, 19th Ed. United States: McGraw-Hill Education, 2015.