XERODERMA PIGMENTOSUM


Xeroderma Pigmentossum

What is Xeroderma Pigmentossum?

- Xeroderma Pigmentosum is a rare skin disorder that makes humans highly sensitive to UV rays emitted by the sun.

Causes:
  • The sun is the primary cause of the symptoms showed by patients with this disorder.
  • This happens because there is a defect in the DNA repair system.
  • X.P is a autosomally recessive inherited disease. Meaning that one must have inherited two recessive X.P genes to show signs or symptoms of the disease.
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Above shows the inheritance of Xeroderma Pigmentosum from two unaffected "carriers" and how its autosomally recessive traits are passed down to their children.
Symptoms:
SKIN:
  • Oozing, Pussing, and Blistering occur and are seen on the outer layer of the skin called the epidermis. This happens because the epidermis is unable to repair lost epidermal cells that have been killed from the exposure to sunlight.
  • X.P does not allow the DNA repair system to mend the cell damage caused by the UV rays. There fore the blisters eventually fall off along with the epidermis as a whole.
  • Because the skin is so sensitive, and the epidermis is destroyed following any exposure to sunlight, people with this disease are often prone to developing skin cancer.
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Above shows a child with the most common symptom of Xeroderma Pigmentosum: Blistering of the Epidermis.
EYES:
  • Eyes become painfully sensitive to the sun.
  • Often conjunctivitis may occur along with bloodshot eyes.
  • Blindness may occur in most severe cases.
NEUROLOGICAL:
  • In late childhood some seem to have poor coordination, deafness etc. which may increase over time.
Treatment:
  • There is no cure for Xeroderma Pigmentosum.
  • Sunblock with a high SPF is needed.
  • Window fliters in homes allow protection for those with X.P.
  • To avoid serious risks of skin cancer or premature aging, one must avoid all contact with UV rays.
  • Patients often wear skin protection suits when going out doors etc.
  • Camp Sun Down located in Craryville, NY allows family's with X.P to experience a different time clock in which they can avoid sun exposure.By sleeping when the sun is up and living their normal lives when the sun is down. Camp Sun Down gives people with this skin disorder an opportunity to meet others who are going through the same struggles and learn useful information to help with their daily lives living with X.P.
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  • Above shows a child wearing a protection suit to avoid sun to skin contact.