Xeroderma Pigmentosum

May 2015

Xeroderma Pigmentosum (XP) is a rare genetic disease where your skin damages easily by UV light and is unable to repair itself. XP patients also can develop eye damage and skin tumours. The XP gene is autosomal recessive which means that your parents could carry one asymptomatic gene each and you then inherit both XP genes.

Statistics


XP affects 1 in 250,000 people, and at present, there are 100 cases in the UK. It is more common in Japan and the Middle East.

Symptoms


The main symptoms are due to sensitivity to UV light and developing skin cancer as early as 4 years of age.

Other symptoms include:
  • Skin problems:
    • Dry or flaky skin
    • Patchy changes in skin colour
  • Eye problems:
    • Difficulty in looking towards the light
    • Conjunctivitis
    • Eyelids folding in or out (ectropion or entropion)
  • Neurological problems:
    • Can be mild or severe, but occur in approximately 20% of patients
    • Deafness
    • Small head size and seizures
    • Reduced IQ

Investigations and Diagnosis


It is important to be referred by your GP to a specialist as soon as possible to try to avoid complications. If young babies and children have severe photosensitivity, they can be referred to a dermatologist. You will need skin biopsies and blood tests to confirm the diagnosis of XP. If XP runs in your family, it is usually possible to diagnose XP prenatally.

Management


Currently, there is no cure for XP. Therefore it is essential to try to prevent and deal with problems as soon as possible. You will be advised how to strictly avoid sunlight by wearing appropriate clothing, and covering windows and light bulbs to prevent UV emission.

Follow-up


You will need regular checks with your dermatologist usually every 3 months. Annual eye checks. Regular neurological and hearing tests. Your GP will also ensure you do not become deficient of vitamin D, and help you with the emotional and social aspects of XP.

Sources


The UK XP support group can provide help, advice and support:

http://joomla.xpsupportgroup.org.uk

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See also


Protocole National de Diagnostic et de soins de Xeroderma Pigmen
Protocole National de Diagnostic et de soins de Xeroderma Pigmen
 Xeroderma Pigmentosum
Xeroderma Pigmentosum
Nationales Diagnose- und Behandlungsprotokoll für XP
Nationales Diagnose- und Behandlungsprotokoll für XP
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