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Incontinentia Pigmenti

Also known as: Bloch-Sulzberger syndrome

Background

IP is a rare genetic condition affecting the skin, hair, teeth and eyes. It is a type of ectodermal dysplasia. IP almost always affects females. Affected males usually do not survive during pregnancy.

Credits

Medical text written October 2005 by Contact a Family. Approved October 2005 by Dr H Stewart. Ophthalmic information written March 2006 by Mr CE Willoughby, Consultant Ophthalmic Surgeon, Royal Victoria Hospital, Belfast, UK and Senior Lecturer in Ophthalmology, Queen's University, Belfast, UK. Last updated April 2012 by Dr H Stewart, Consultant Clinical Geneticist, Churchill Hospital, Oxford, UK.

What are the symptoms?

Features on the skin include:

  • in the first months of life, skin redness with lines of blisters affect all areas except the face
  • as the blisters heal, warty areas occur on the skin of the hands and feet. These usually clear by six months of age
  • excessive brown pigmentation occurs in streaks on the body. These fade in adolescence. These give IP its name
  • in adulthood pale hairless streaks or patches appear.

Other features include:

  • missing, small or misshapen teeth
  • alopecia (baldness) or coarse, dull hair
  • nail ridging or pitting.

The eyes are often mildly affected. A third of people with IP have a squint. Around 40 per cent have abnormalities of the blood vessels at the back of the eye (retina). Rarely this can lead to retinal scarring and detachment which may cause vision loss, usually in one eye. Screening is advised to avoid this.

Occasionally, seizures (see entry Epilepsy) and learning disability occur. People with IP live as long as people without the condition.

What are the causes?

IP is caused by mutations in the NEMO gene on the X chromosome.

How is it diagnosed?

  • A doctor may observe features of IP.
  • A skin biopsy (removal of a small skin sample) can confirm the diagnosis of IP but is not often needed.
  • A genetic test, (DNA test), looking for mutations in the NEMO gene, can confirm the diagnosis in most people.
  • Testing can also identify family members who carry the genetic mutation causing IP, but are not affected by the condition.

How is it treated?

There is no cure for IP.

Management aims to prevent or treat infection of blisters by locally applied medications. This doesn't shorten the period in which blisters occur. Pigmented (darkly coloured) areas can be camouflaged with creams or cosmetics. A wig may be necessary in rare cases.

An eye examination should be performed soon after birth. IP patients should be reviewed regularly by an ophthalmologist (eye doctor), aiming to prevent eye complications or treat them early to avoid visual problems. Any changes in vision must be reported quickly.

A dentist should check the child's teeth regularly and specialist referral made if necessary.

Inheritance patterns and prenatal diagnosis

Inheritance patterns
X-linked dominant.

Prenatal diagnosis
Genetic counselling is recommended. Prenatal testing is available for families already known to be affected.

Is there support?

Information and support in the UK for incontinentia pigmenti is provided by the Ectodermal Dysplasia Society (see entry Ectodermal Dysplasia).

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