Xeroderma Pigmentosum (De Sanctis-Cacchione syndrome) - Medtick
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Xeroderma Pigmentosum (De Sanctis-Cacchione syndrome)

What is it?

A skin genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light from sunlight and some artificial light i.e. light bulbs causing extreme skin sensitivity.

  • Common location includes:
    • Sun Skin exposed areas i.e. eyes

Cause

  • Family History (autosomal recessive condition) -person would need to inherit one gene  Xeroderma Pigmentosum copy from each parent
  • Eight inherited forms of Xeroderma Pigmentosum: complementation group A (XP-A) through complementation group G (XP-G) plus a variant type (XP-V).
  • The types are distinguished by their genetic cause.

Genetic Home Reference

Symptoms

  • Severe sunburn after spending just a few minutes in the sun or even on overcast and cloudy days?
  • Sunburn causes redness and blistering that can last for weeks?
  • Develop freckling of the skin in sun-exposed areas (such as the face, arms, and lips) by the age of two years old?
  • Dry skin?
  • Skin ageing?
  • Changes in skin colour?
  • Small head?
  • Eyes become bloodshot and irritated?
  • Eyes become watery and sensitive to the light?
  • Eyelashes become thin  and/or lose eyelashes and/or move inwards or outwards?
  • Non-cancer growths on eye?
  • Telangiectasia (a widening of the small blood vessels, which produces red lines and patterns on the skin)?
  • Short stature?

Complications /Information to beware of/General tips:

This condition can also cause:

General tips

This condition may show similar symptoms to:

Please talk to your healthcare professional (i.e. Medical Doctor/Pharmacist) for further advice

Detailed Information

Please copy and paste any key words from the title: Xeroderma Pigmentosum (De Sanctis-Cacchione syndrome) in the following respective 'Medtick References and/or Sources' to find out more about the disease (this also may include diagnosis tests and generic medical treatments).

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