Incontinentia pigmenti syndrome

Alternative names:

Bloch-Sulzberger syndrome; IPS

Definition:

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

Causes, incidence, and risk factors:

Incontinentia pigmenti syndrome (IPS) is thought to be inherited as a dominant X-linked trait although it is possible that it is a dominant autosomal 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 but leave damaged hypopigmented (too little pigment) skin behind. Later whorls and streaks of hyperpigmented (more pigment than normal) skin 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.