MedlinePlus Medical Encyclopedia: Xeroderma pigmentosa

Skip navigation


Medical Encyclopedia
Other encyclopedia topics:	A-Ag Ah-Ap Aq-Az B-Bk Bl-Bz C-Cg Ch-Co Cp-Cz D-Di Dj-Dz E-Ep Eq-Ez F G H-Hf Hg-Hz I-In Io-Iz J K L-Ln Lo-Lz M-Mf Mg-Mz N O P-Pl Pm-Pz Q R S-Sh Si-Sp Sq-Sz T-Tn To-Tz U V W X Y Z 0-9

Xeroderma pigmentosa

Contents of this page:
Illustrations Definition Causes, incidence, and risk factors Symptoms Signs and tests Treatment	Support Groups Expectations (prognosis) Complications Calling your health care provider Prevention

Illustrations

Chromosomes and DNA

Definition Return to top

Xeroderma pigmentosa is an inherited inability to repair DNA damage from ultraviolet light.

Causes, incidence, and risk factors Return to top

Xeroderma pigmentosa is inherited as an autosomal recessive trait. Those affected are extremely sensitive to the ultraviolet portion of sunlight. Ultraviolet light exposure damages DNA (the genetic material within a cell) in skin cells.

Normally, peoples' bodies can repair this damage. However, people with xeroderma pigmentosa cannot repair the damaged DNA and rapidly develop skin atrophy (thinning), splotchy pigmentation, spidery blood vessels in the skin (telangiectasia), and skin cancers.

Skin cancers include basal cell carcinoma, squamous cell carcinoma, and malignant melanoma. Basal cell skin cancers are fairly easy to treat and have a low rate of metastasis. Squamous cell cancer is more difficult to treat, and melanoma has a very high rate of spreading to other organs.

Affected people develop increasing disfigurement following any intermittent exposure to sunlight. Malignant (cancerous) skin lesions are often present before the child is 5 years old.

Symptoms Return to top

A sunburn that does not heal following minimal sun exposure
Blistering following minimal sun exposure
Cutaneous telangiectasia
Increasing irregular pigmentation of the skin
Crusting of the skin
Scaling of the skin
Oozing raw skin surface
Discomfort when exposed to bright light (photophobia)
Neurologic changes are sometimes noted

Signs and tests Return to top

There may be a family history of xeroderma pigmentosa.

Examination of the eyes may show other signs of this disorder:

The following tests can help diagnose the disorder before birth:

Amniocentesis
Chorionic villous sampling
Culture of amniotic cells

The following tests can help diagnose the disorder after the birth of the child:

Culture of skin fibroblasts
Skin biopsy (of skin tumors confirms the type of tumor, including basal cell carcinoma, squamous cell carcinoma, or malignant melanoma)

Treatment Return to top

Children with this condition require total protection from sunlight. In addition, light coming through window glass and light from fluorescent bulbs is also dangerous. When some sunlight exposure cannot be avoided, protective clothing should cover the skin.

High protection (SPF 30 or greater) sunscreen and very dark, UV-protected glasses should be worn. Trials of medications to help prevent skin cancers are currently being performed.

Support Groups Return to top

Visit www.xps.org for more information and support.

Expectations (prognosis) Return to top

Most affected people die of malignancy early in adulthood.

Complications Return to top

Disfigurement
Basal cell tumors
Squamous cell tumors
Malignant melanoma

Calling your health care provider Return to top

Call for an appointment with your health care provider if you or your child has symptoms of xeroderma pigmentosa.

Call for an appointment with your health care provider if you have a family history of xeroderma pigmentosa and you are planning to have children. Ask the provider about genetic counseling.

Prevention Return to top

Genetic counseling is recommended for prospective parents with a family history of xeroderma pigmentosa. Intrauterine diagnosis is possible from cultured amniotic cells that exhibit the inability to repair DNA.

Update Date: 8/15/2003

Updated by: Michael Lehrer, M.D., Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.