What is xeroderma pigmentosum?

Xeroderma pigmentosum is a rare genetic condition where DNA cannot be repaired following damage caused by UV light. There are 8 different types, which account for 8 possible different mutations that can cause the condition.

It is the cells of the skin which are most exposed to sunlight and UV radiation. As a result, signs and symptoms mainly relate to the skin. They include:

  • a disproportionately severe sunburn reaction after only a short exposure the sun
  • freckles and irregular dark spots on the skin
  • blisters and freckles that appear after a short time in the sun
  • thickened or thinner areas of skin
  • dry skin, or skin that looks old, scaly, or crusty
  • the eyes become very sensitive to light
  • shrinking of eyelids
  • many skin and eye cancers and tumours, which develop at a young age

There is no treatment for xeroderma pigmentosum, but there is help available. The most important aspect of management is to reduce exposure to the sun. This can involve wearing full length clothes with gloves and sunglasses, and face-shields, as well as staying indoors during daylight hours, changing lighting in the house to minimise any UV radiation indoors, and buying specialised screens for windows to stop UV radiation coming inside.

People with xeroderma pigmentosum should take vitamin D supplements to stop them developing bone weakness. Vitamin D is made in the skin with the help of sunlight, however, this is not possible in patients with xeroderma pigmentosum who are avoiding the sun. It is also important to get any tumours or abnormal growths removed before they become malignant and spread.

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