Bloch-Sulzberger Syndrome (Incontinentia Pigmenti (IP)

Bloch-Sulzberger, Incontinentia Pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. It is one of a group of gene-linked diseases known as neurocutaneous disorders. In most cases, IP is caused by mutations in a gene called NEMO (NF-kappaB essential modulator).

Incontinentia pigmenti is an uncommon disorder. Between 900 and 1,200 affected individuals have been reported in the scientific literature. Most of these individuals are female, but several dozen males with incontinentia pigmenti have also been identified.

Symptoms

 

  • About 20% of children with IP will have slow motor development, muscle weakness in one or both sides of the body, mental retardation, and seizures
  • Dental problems are also common, including missing or peg-shaped teeth.
  • Discolored skin is caused by excessive deposits of melanin (normal skin pigment)
  • Males are more severely affected than females
  • Most newborns with IP will develop discolored skin within the first two weeks
  • Neurological problems include loss of brain tissue (known as cerebral atrophy), the formation of small cavities in the central white matter of the brain, and the loss of neurons in the cerebellar cortex
  • The discoloration fades with age
  • The pigmentation involves the trunk and extremities, is slate-grey, blue or brown, and is distributed in irregular marbled or wavy lines
  • They are also likely to have visual problems; including crossed eyes, cataracts, and severe visual loss
  • A related disorder, incontinentia pigmenti achromians, features skin patterns of light, unpigmented swirls and streaks that are the reverse of IP. Associated neurological problems are similar.

 

 

Treatments

  • A specialist may treat dental problems
  • Diminished vision may be treated with corrective lenses, medication, or, in severe cases, surgery
  • Neurological symptoms such as seizures, muscle spasms, or mild paralysis may be controlled with medication and/or medical devices and with the advice of a neurologist
  • The skin abnormalities of IP usually disappear by adolescence or adulthood without treatment
Support Links

·         www.rarediseases.org

·         www.nei.nih.gov

·         www.niams.nih.gov

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