Incontinentia pigmenti syndrome

Incontinentia pigmenti on the leg

Incontinentia pigmenti syndrome

Definition:

An inherited disorder that causes unusual blistering of the skin followed by increased pigmentation.

Alternative Names:

Bloch-Sulzberger's disease

Causes, incidence, and risk factors:

Incontinentia pigmenti syndrome (IPS) is inherited as a dominant X-linked trait. Almost all cases are among females and the condition may be lethal in males. IPS may also arise as a spontaneous mutation.

Infants with IPS are born with blistery (vesicular) lesions which appear as streaks. These lesions heal as rough or verrucous papules. Eventually, these papules clear but leave damaged hyperpigmented (too much pigment) skin behind. After several years, the skin returns to normal. In some adults, whorls and streaks of faint hypopigmentation (less pigment than normal) may appear.

Most people with IPS also have other problems including abnormal teeth, hair loss, and central nervous system (CNS) abnormalities. CNS problems may include retardation and delayed development, seizures, spasticity, and paralysis. Visual problems may develop in up to a third of affected people.

Symptoms:

blistering lesions in the newborn
areas of hypopigmentation
whorls and unusual patterns of hyperpigmentation
abnormal teeth
delayed development
seizures

Signs and tests:

classical pigmentary changes, whorls, and unusual patterns
early vesiculation in linear streaks (lines of blisters)
hair loss
retardation
spasticity
paralysis
abnormal retinal findings on eye examination
cataracts
strabismus (crossed eyes)
microcephaly (abnormally small head)
bone abnormalities

Treatment:

There is no one treatment for IPS. Therapies must address the specific problems that are present.

Expectations (prognosis):

Prognosis varies depending on the degree of central nervous system involvement and visual impairment.

Complications:

secondary infections of blistered skin
mental retardation
delayed development
seizures
paralysis
muscle spasticity and difficulty walking
visual problems

Calling your health care provider:

Call your health care provider if you have a family history of this disorder and are considering having children, or if your child shows symptoms that characterize this disorder.

Prevention:

Genetic counseling may be of value for prospective parents with a family history of IPS.

Review Date: 12/2/2001
Reviewed By: Michael Lehrer, M.D., Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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