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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:

Tests:
Prenatal (before birth) diagnosis:

Postnatal diagnosis (after birth of the child):


Adam

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