Incontinentia pigmenti syndrome

Definition

Incontinentia pigmenti syndrome is an inherited disorder that causes unusual blistering of the skin followed by increased pigmentation.

Alternative Names

Causes

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 bumps. Eventually, these bumps 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

Exams and Tests

• Classic pigment changes, whorls, and unusual patterns
• 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 will be aimed at specific problems.

Outlook (Prognosis)

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

Possible Complications

• Secondary infections of blistered skin
• Mental retardation
• Delayed development
• Seizures
• Paralysis
• Muscle spasticity and difficulty walking
• Visual problems

When to Contact a Medical Professional

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 helpful for people with a family history of IPS who want to have children.