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(Q82.3) Incontinentia pigmenti
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266 982 in individuals diagnosis incontinentia pigmenti confirmed
2 472 deaths with diagnosis incontinentia pigmenti
1% mortality rate associated with the disease incontinentia pigmenti
Diagnosis incontinentia pigmenti is diagnosed Women are 6.25% more likely than Men
125 148
Men receive the diagnosis incontinentia pigmenti
1 374 (1.1 %)Died from this diagnosis.
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141 834
Women receive the diagnosis incontinentia pigmenti
1 098 (0.8 %)Died from this diagnosis.
Risk Group for the Disease incontinentia pigmenti - Men and Women aged 0
In Men diagnosis is most often set at age 0-89
Less common in men the disease occurs at Age 90-95+Less common in women the disease occurs at Age 90-94
In Women diagnosis is most often set at age 0-89, 95+
Disease Features incontinentia pigmenti
Absence or low individual and public risk
Incontinentia pigmenti - what does this mean
Incontinentia pigmenti is a rare genetic disorder that occurs when a mutation in the nemo gene causes the body to produce abnormal proteins. this leads to a disruption of the normal development of skin, hair, teeth, and nails. symptoms can include skin blistering, irregular pigmentation, and hair loss.
What happens during the disease - incontinentia pigmenti
Incontinentia pigmenti is a rare genetic disorder caused by a mutation in the ikbkg gene. this gene mutation causes the body to produce abnormal proteins that disrupt the normal development of the skin, hair and teeth. the abnormal proteins can lead to skin blistering, discoloration, and scarring, as well as hair loss and abnormal teeth formation. it can also cause neurological complications such as seizures and mental retardation.
Clinical Pattern
Incontinentia pigmenti is a rare genetic disorder that can affect the skin, hair, teeth, nails, and nervous system. It is characterized by the presence of hyperpigmented and hypopigmented patches on the skin, which may be accompanied by blistering, hair loss, and nail dystrophy. In some cases, neurological symptoms such as seizures, mental retardation, and behavioral problems may also occur.
How does a doctor diagnose
- Physical examination
- Genetic testing
- Skin biopsy
- Ophthalmologic examination
- Neurologic testing
- X-rays
- MRI
Treatment and Medical Assistance
Main goal of the treatment: To manage the symptoms of Incontinentia pigmenti and improve the patient's quality of life.
- Regularly monitor the patient's overall health and development
- Provide physical and occupational therapy to help the patient develop motor skills
- Provide psychological and social support to the patient and their family
- Provide vision and hearing tests to monitor any changes
- Provide regular dental check-ups to monitor any changes
- Provide regular skin care and treatments to manage skin changes
- Provide regular blood tests to monitor any changes in the patient's health
- Provide regular immunizations to reduce the risk of infection
- Provide genetic counseling and testing to determine the risk of recurrence in future generations
- Provide regular monitoring of the patient's neurologic development
8 Days of Hospitalization Required
69 Hours Required for Outpatient Treatment
Incontinentia pigmenti - Prevention
Incontinentia pigmenti can be prevented by avoiding exposure to known triggers such as certain medications and environmental toxins. additionally, genetic counseling is recommended for those with a family history of the disease.