Xeroderma Pigmentosum

Xeroderma Pigmentosum or XP is a very rare, heritable disorder.  A genetic defect in ultraviolet radiation induced DNA repair mechanisms.  Distinguishing features; increase sensitivity to UV radiation, especially sun light.

Early intervention and diagnosis can delay the onset of it's many complications. and or can lead to death.  It appears typically by 1 - 2 years of age, with the detection of severe sunburn with just the very minimal exposure to sunlight, and freckles - like spots on exposed areas, later symptoms includes; premature aging, cancer of the skin, eye problems and neurologic abnormalities can develop.

Xeroderma pigmentosum is categorized in different groups according to the capacity of the body to repair DNA.

Symptoms:

Sun - burns easily, developing blisters with just minimal sun exposure
Deafness
Dwarfism ( hypergonadism )
Developmental disabilities
Skin Cancer
Mental retardation
Eye Cancer
Failure of muscular coordination
Can be life threatening

Treatment:

Early detection and interventions
Management of this disorder
Gene therapy for DNA repair
Protein Therapy

Seek medical treatment promptly if you suspect your child to have sensitivity to any UV source.

Latest Article: Xeroderma Pigmentosum

Xeroderma Pigmentosum or XP is a very rare, heritable disorder.  A genetic defect in ultraviolet radiation induced DNA repair mechanisms.  Distinguishing features; increase sensitivity to UV radiation, especially sun light. Early intervention and diagnosis can delay the onset of it's many complications. and or can lead to death.  It appears typically by 1 - 2...

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