Symptoms & Signs
- 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)
Diagnosis & Tests
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
Chromosomes and DN
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Xeroderma pigmentosa:Overview, Causes
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Xeroderma pigmentosa:Symptoms & Signs, Diagnosis & Tests
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Xeroderma pigmentosa:Treatment
Review Date : 5/7/2009
Reviewed By : Michael Lehrer, MD, Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, Pa. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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