Xeroderma pigmentosa

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Chromosomes and DNA

• Sunburn that does not heal after just a little bit of sun exposure
• Blistering after just a little bit of sun exposure
• Spider-like blood vessels under the skin
• Patches of discolored skin that get worse
• Crusting of the skin
• Scaling of the skin
• Oozing raw skin surface
• Discomfort when being in bright light (photophobia)

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

An eye exam may show:

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

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

Review Date: 05/13/2011
Reviewed By: Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org).

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