Xeroderma pigmentosa

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Chromosomes and DNA

Overview

Symptoms

Treatment

Prevention

Xeroderma pigmentosa

Symptoms:

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:

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)

Review Date: 4/30/2005
Reviewed By: Jonathan Kantor, M.D., Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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