Bloch-Sulzberger's disease

Alternative names

Incontinentia pigmenti syndrome

Definition

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

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.