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How is diagnosis for incontinentia pigmenti conducted?
GaleEncyofNeuroDis
Diagnosis is achieved first by a clinical diagnosis from a clinical geneticist, followed by molecular genetic testing in a CLIA-approved diagnostic laboratory
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∙ 13y ago
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What is incontinentia pigmenti?
Incontinentia pigmenti is a rare genetic disease resulting in a neurocutaneous disorder affecting the nervous system whose abnormalities can involve the skin, hair, and teeth of affected individuals.
What is treatment for incontinentia pigmenti?
As there is no cure for incontinentia pigmenti, treatment is based on symptoms. The risk of infection from blisters is a consideration, and topical medications can often be used to lessen pain
What is the average life span of a person with incontinentia pigment?
The average lifespan of someone with incontinentia pigmenti can vary depending on the severity of symptoms and associated complications. With proper medical management and treatment, many individuals with this condition can live a normal lifespan. Regular follow-up care with a healthcare provider is important to monitor for any potential complications.
What neurological problems are associated with incontinentia pigmenti?
Neurological problems associated with incontinentia pigmenti include cerebral atrophy, leading to poor muscle control and weakness. Mental retardation and seizures are also similarly present.
What types of professionals assist in treatment of incontinentia pigmenti?
The treatment team consists of a neurologist , clinical geneticist, genetic counselor, speech pathologist, ophthalmologist, and a dermatologist.
What are the stages in which incontinentia pigmenti produces defects in the skin?
The first stage usually occurs before four months old when the blisters appear in the skin. The second stage involves a wart-like rash, while the third brings darkened pigmentation and the last,linear hypopigmentation
What role does heredity play in transmission of incontinentia pigmenti?
The gene that is defective in this disease is located on the X chromosome and is inherited as a dominant disorder, meaning that a child of an affected mother has a 50% risk of inheriting the disorder. If mother has IP then female child has 50% chance of inheriting IP. The male child with IP usually do not survive.
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Diagnosis is arrived at through characteristic abnormalities found on the electroencephalogram (EEG), a test of brain waves and electricity.
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