Symptoms
Symptoms of incontinentia pigmenti are usually present at birth, or develop within the first few weeks of life. The skin symptoms appear in a chronological sequence:
- Stage 1 – Red bumps (papules) and fluid-filled blisters (vesicles) erupt on reddened skin, usually arranged in lines on the arms or legs
- Stage 2 – Thickened, wart-like areas appear on reddened skin and form patches or whorls
- Stage 3 – Brown or slate-gray skin appears in streaks and whorls, usually on the chest and back
- Stage 4 – Pale streaked or networked patches develop, most noticeably on the legs
- Hair loss on the head, which may include eyebrows and eyelashes
- Fingernails and toenails may be thickened with ridges
- Abnormal teeth (80% of individuals)
- Serious eye problems (30% of individuals) may include retinal detachment, retinopathy, or cataracts
- Neurological problems such as seizures, developmental delay, mental retardation, difficulty walking (ataxia), or brain malformations
Diagnosis
Diagnosis is usually based on the symptoms, especially the skin lesions, which appear in sequence. There is no specific test for incontinentia pigmenti, although genetic testing can detect the genetic disorder on the X chromosome. Magnetic resonance imaging (MRI) can detect brain abnormalities.
Treatment
There is no specific treatment for incontinentia pigmenti. Treatment of the skin lesions is usually not necessary. Skin is kept clean and blisters left intact to prevent skin infection. Dental work may be necessary, depending on the tooth abnormalities present. Seizures are treated with antiseizure medication. Eye disorders may also need to be treated to prevent or reduce vision loss.
Information for this article was taken from:
Tsuji, T. (2002). Incontinentia pigmenti. eMedicine, accessed at http://www.emedicine.com/derm/topic698.htm
