What causes incontinentia pigmenti?
This condition is inherited in an X-linked dominant pattern . The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes . In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder.
Is incontinentia pigmenti life threatening?
Incontinentia pigmenti (IP) is an X-linked dominant disorder and in males, is usually lethal before birth. In affected females, it causes highly variable abnormalities of the skin, hair, nails, teeth, eyes, and central nervous system.
How does incontinentia pigmenti affect the human body?
About 30 percent of children with IP will have slow motor development, muscle weakness in one or both sides of the body, intellectual disability, and/or seizures. Abnormalities in the development of the breast, ranging from extra nipples to complete absence of the breast, are sometimes seen in individuals with IP.
What is Bloch-Sulzberger syndrome?
Incontinentia pigmenti or Bloch-Sulzberger syndrome is a rare genodermatosis, linked to X chromosome, of autosomal dominant character, which affects ectodermal and mesodermal tissues, such as skin, eyes, teeth and central nervous system.
How long do people with incontinentia pigmenti live?
Prognosis. Life expectancy is considered to be normal for people with incontinentia pigmenti (IP) who did not develop significant complications in the newborn period or in infancy. Newborns with IP who develop seizures and people with significant neurological involvement may have a worse prognosis .
Is incontinentia pigmenti an autoimmune disease?
On these bases, incontinentia pigmenti (IP; or NEMO syndrome) was diagnosed and confirmed by genetic testing. The NEMO gene is implicated in immune deficiencies as well as in autoimmune diseases.
How long do people with Incontinentia Pigmenti live?
Is Incontinentia Pigmenti an autoimmune disease?
What is Incontinentia pigmenti?
Incontinentia pigmenti (IP) is a genetic condition that affects the skin and other body systems. Skin symptoms change with time and begin with a blistering rash in infancy, followed by wart-like skin growths.
What is the prognosis for incontinentia pigmenti?
Prognosis Prognosis. Life expectancy is considered to be normal for people with incontinentia pigmenti (IP) who did not develop significant complications in the newborn period or in infancy. Newborns with IP who develop seizures and people with significant neurological involvement may have a worse prognosis.
What are the treatment options for incontinentia pigmenti?
There is no specific treatment for incontinentia pigmenti. Treatment is aimed at addressing the specific symptoms seen in each individual. This might include standard management of blisters and skin infections, addressing dental problems and the associated speech and/or feeding problems,…