Xeroderma pigmentosa

Symptoms:

• a sunburn which 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)

Signs and tests:

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

Tests:
Prenatal (before birth) diagnosis:

• amniocentesis
• culture of amniotic cells

Postnatal diagnosis (after 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)