Genetics[ edit ] IP is inherited in an X-linked dominant manner. Parents may either be clinically affected or have germline mosaicism. Genetic counseling , prenatal testing, and preimplantation genetic diagnosis is available. In females, the cells expressing the mutated IKBKG gene due to lyonization selectively die around the time of birth, so the X-inactivation is extremely skewed. Diagnosis[ edit ] The diagnosis of IP is established by clinical findings and occasionally by corroborative skin biopsy. Such testing is available clinically.
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Incontinentia pigmenti is a rare genetic condition characterised by skin, eye, teeth and central nervous system CNS abnormalities. What causes incontinentia pigmenti? Incontinentia pigmenti is a dominant X-linked disease. Dominant X-linked disease means that a female with only one copy of the abnormal gene will show the disease, even though they have a normal gene on their other X-chromosome.
Males who inherit the abnormal gene do not survive, resulting in miscarriage or stillbirth X-linked dominant, male-lethal syndrome. Rarely incontinentia pigmenti is reported in males with Klinefelter syndrome XXY syndrome or as a result of spontaneous mutations. The incontinentia pigmenti gene is localised on chromosome Xq Cell death in the skin may present with blisters.
These heal as the cells with the mutation die and are replaced by surrounding cells. Cell death also affects the endothelial cells cells lining blood vessel walls in the brain. This causes abnormal vessels to develop, and leakage of proteins from the blood into the brain.
This may cause seizures. What are the cutaneous features of incontinentia pigmenti? Progressive skin rashes are the main clinical feature of the disease. There are four recognised clinical stages but their sequence is irregular, their duration variable and they may overlap.
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