Xeroderma pigmentosa

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Chromosomes and DNA

• 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

There may be a family history of xeroderma pigmentosa.

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

• Clouding of the cornea
• Keratitis
• Lid tumors
• Blepharitis

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: 04/30/2005
Reviewed By: Jonathan Kantor, M.D., Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.