Incontinentia pigmenti

Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. It is one of a group of gene-linked diseases known as neurocutaneous disorders ...1

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Symptoms of Incontinentia pigmenti

Discolored skin is caused by excessive deposits of melanin (normal skin pigment). Most newborns with IP will develop discolored skin within the first two weeks. The pigmentation involves the trunk and extremities, is slate-grey, blue or brown, and is ...2

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Causes of Incontinentia pigmenti

Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. It is one of a group of gene-linked diseases known as neurocutaneous disorders ...3

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Genetics of Incontinentia pigmenti

Genetic Changes: Mutations in the IKBKG gene cause incontinentia pigmenti . The IKBKG gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that helps protect cells ...4

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Treatments: Incontinentia pigmenti

Is there any treatment? The skin abnormalities of IP usually disappear by adolescence or adulthood without treatment. Diminished vision may be treated with corrective lenses, medication, or, in severe cases, surgery. A specialist may treat dental problems. Neurological symptoms such ...5

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Research for Incontinentia pigmenti

What research is being done? Researchers have begun to use genetic linkage studies to map the location of genes associated with the neurocutaneous disorders. Research supported by the NINDS includes studies to understand how the brain and nervous system normally ...6

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)7 ...

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References

  1. Source: NINDS (NIH): ninds.nih.gov/ disorders/ incontinentia_pigmenti/ incontinentia_pigmenti.htm
  2. ibid.
  3. ibid.
  4. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ incontinentia-pigmenti
  5. Source: NINDS (NIH): ninds.nih.gov/ disorders/ incontinentia_pigmenti/ incontinentia_pigmenti.htm
  6. ibid.
  7. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ incontinentia-pigmenti

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