Xeroderma Pigmentosa: Causes, Symptoms, Exams and Tests, Treatment, Forecast, Prevention

Xeroderma Pigmentosa


It is a rare condition that is passed down through families in which the skin and the tissue covering the eye is extremely sensitive to ultraviolet light.

Causes

Ultraviolet light, like that found in sunlight damages the genetic material (DNA) in cells of the skin, but usually the body repairs this damage. However, in people with xeroderma pigmentosa, the body does not fix the damage as a result, the skin becomes very thin and appear patches of varying colors (mottled pigmentation).

The condition also causes spidery blood vessels in the skin (telangiectasia) and skin cancer. The latter often occurs before the child is 5 years.

Symptoms

* Sunburn that does not heal after a bit of sun exposure
* Blisters after a bit of sun exposure
* Arachnoid blood vessels under the skin
* Patches of discolored skin that get worse
* Crusting of skin
* Peeling skin
* Skin surface oozing raw
* Discomfort when being in bright light (photophobia)

Exams and Tests

The doctor will perform a physical exam and ask if you have a family history of xeroderma pigmentosa.

An eye exam may show:

* Cloudy cornea
* Keratitis
* Lid tumors
* Blepharitis

The following tests can help diagnose the condition in a baby before birth:

* Amniocentesis
* Chorionic villus sampling
* Culture of amniotic cells

The following tests can help diagnose the disorder after birth:

* Culture of skin fibroblasts
* Skin biopsy

Treatment

Children with this condition require total protection from sunlight. Even the light coming through windows and fluorescent bulbs is dangerous.

When these children have to go into the sun should wear protective clothing.

Use high protection sunscreen (SPF of 70 or more) and very dark glasses with ultraviolet light protection. Your doctor may prescribe medications to help prevent certain skin cancers.
Support Groups

Forecast

Most people with this problem die of skin cancer in early adulthood.
Possible complications

* Change in skin appearance (deformation)
* Skin cancer

When to Contact a Medical Professional

Call for an appointment if you or your child has symptoms of xeroderma pigmentosa.

Prevention

Experts recommend genetic counseling for people with a family history of xeroderma pigmentosa who wish to conceive.