Incontinentia pigmenti
Incontinentia Pigmenti
Incontinentia Pigmenti (pronunciation: in-kon-ti-nen-sha pig-men-ti) is a rare genetic disorder that affects the skin, hair, teeth, and central nervous system. It is also known as Bloch-Sulzberger syndrome.
Etymology
The term "Incontinentia Pigmenti" is derived from Latin, where "incontinentia" means "inability to hold" and "pigmenti" refers to "pigment". This refers to the characteristic of the disorder where the body is unable to contain the pigment in the skin in a normal manner.
Symptoms
The symptoms of Incontinentia Pigmenti vary widely among affected individuals. They may include:
- Skin abnormalities: These are often the first noticeable signs of the disorder. They typically follow a pattern over time, beginning with blisters, followed by a rough, wart-like rash, and then swirling patterns of dark skin.
- Hair abnormalities: Affected individuals may have sparse hair, or hair that is brittle and breaks easily.
- Dental abnormalities: These may include missing or peg-shaped teeth.
- Eye abnormalities: These can lead to vision loss.
- Neurological abnormalities: These can include intellectual disability, seizures, and problems with movement and coordination.
Causes
Incontinentia Pigmenti is caused by mutations in the IKBKG gene. This gene provides instructions for making a protein that is involved in regulating the activity of NF-kappaB, a protein complex that plays a key role in immune system function.
Diagnosis
Diagnosis of Incontinentia Pigmenti is based on the characteristic skin symptoms. Genetic testing can confirm the diagnosis.
Treatment
There is no cure for Incontinentia Pigmenti. Treatment is symptomatic and supportive, and may include skin care, dental care, and regular eye exams.
See Also
External links
- Medical encyclopedia article on Incontinentia pigmenti
- Wikipedia's article - Incontinentia pigmenti
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