Quick Answer: How Is Xeroderma Pigmentosum Diagnosed?

How is xeroderma pigmentosum diagnosed?

A child presenting with severe sunburn after their first exposure to sun may be a clue to the diagnosis of xeroderma pigmentosum.

Xeroderma pigmentosum can usually be conclusively diagnosed by measuring the DNA repair factor from skin or blood samples.

What are the symptoms of xeroderma pigmentosum?

Skin symptoms include:

  • 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, resembling severe aging.
  • Crusting of the skin.
  • Scaling of the skin.
  • Oozing raw skin surface.

How is xeroderma pigmentosum caused?

Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. DNA can be damaged by UV rays from the sun and by toxic chemicals such as those found in cigarette smoke. Normal cells are usually able to fix DNA damage before it causes problems.

What is the life expectancy of a person with xeroderma pigmentosum?

The average life expectancy of an individual with any type of XP and no neurological features is approximately 37 years (29 years if neurological features are present).

How is xeroderma pigmentosum treated?

Skin cancers can be treated using standard treatment protocols, including electrodesiccation and curettage (scrapes away the lesion and uses electricity to kill any remaining cells ), surgical excision, or chemosurgery. High dose oral isotretinoin or acitretin can be used to prevent new cancers.