WHAT IS INCONTINENTIA PIGMENTI?

Incontinentia Pigmenti (IP) is a genetic disease of the skin, hair, teeth and central nervous system. The condition was named because of the way the skin looks under the microscope. “Bloch-Sulzberger Syndrome” is another name commonly used for IP. Other names are: Bloch-Siemens Incontinentia Pigmenti, Melanoblastosis Cutis Linearis, and Pigmented Dermatosis, Siemens-Bloch Type.

Incontinentia Pigmenti (IP) is a rare genetic disorder. The cause has been traced to a defective gene on the X-chromosome called NEMO. The disease varies from very severe to mild and clinically inconsequential. The signs described in this brochure vary in severity from person to person, and there is variability even among affected individuals in the same family. The prevalence of IP is unknown. As is often the case with rare disorders, it is likely that IP often goes undiagnosed or misdiagnosed. A woman with IP has a 50% chance of passing on this gene to each of her daughters. For male fetuses, of the 50% who inherit the IP gene, the great majority will result in a spontaneous abortion (or miscarriage) as IP is nearly always lethal in a male fetus. But for extremely rare exceptions, any live born male will be unaffected. There is no known ethnic or racial predisposition and cases have been reported throughout the world. Treatment is symptomatic and supportive. There is currently no cure for IP. Genetic counseling for affected women, parents of affected children, and relatives at risk is recommended. However, with the discovery of the gene, NEMO, and the relationship of mutations and alterations within NEMO to IP, prenatal diagnosis is now possible.

Incontinentia Pigmenti International Foundation