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Incontinentia Pigmenti
Synonym(s): Bloch-Sulzberger Syndrome
What is Incontinentia Pigmenti?
Incontinentia pigmenti (IP) is one of a group of gene-linked diseases known
as neurocutaneous disorders. These disorders cause characteristic patterns of
discolored skin and also involve the brain, eyes, nails, and hair. In most
cases, IP is caused by mutations in a gene called NEMO (NF-kappaB essential
modulator). Males are more severely affected than females. Discolored skin is
caused by excessive deposits of melanin (normal skin pigment). Most newborns
with IP will develop discolored skin within the first two weeks. The
pigmentation involves the trunk and extremities, is slate-grey, blue or brown,
and is distributed in irregular marbled or wavy lines. The discoloration fades
with age. Neurological problems include cerebral atrophy, the formation of small
cavities in the central white matter of the brain, and the loss of neurons in
the cerebellar cortex. 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. They are also likely to have visual problems,
including crossed eyes, cataracts, and severe visual loss. Dental problems are
also common, including missing or peg-shaped teeth. 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.
Is there any treatment?
The skin abnormalities of IP usually disappear by adolescence or adulthood
without treatment. Diminished vision may be treated with corrective lenses,
medication, or, in severe cases, surgery. A specialist may treat dental
problems. 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.
What is the prognosis?
Although the skin abnormalities usually regress, and sometimes disappear
completely, there may be residual neurological difficulties.
What research is being done?
Researchers have begun to use genetic linkage studies to map the location of
genes associated with the neurocutaneous disorders. Research supported by the
NINDS includes studies to understand how the brain and nervous system normally
develop and function and how they are affected by genetic mutations. These
studies contribute to a greater understanding of gene-linked disorders such as
IP, and have the potential to open promising new avenues of treatment.
Organizations
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291
National Eye Institute (NEI)
National Institutes of Health, DHHS
31 Center Drive, Rm. 6A32 MSC 2510
Bethesda, MD 20892-2510
2020@nei.nih.gov
http://www.nei.nih.gov
Tel: 301-496-5248
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Institutes of Health, DHHS
31 Center Dr., Rm. 4C02 MSC 2350
Bethesda, MD 20892-2350
NIAMSinfo@mail.nih.gov
http://www.niams.nih.gov
Tel: 301-496-8190 877-22-NIAMS (226-4267)
Source: National Institutes of Health; National Institute of
Neurological Disorders and Stroke
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