Symptoms
- May 1, 2014
- 1 min read
Symptoms
Wide range of symptoms:
Blistering or freckling after minimum sun exposure
Premature aging of skin, lips, eyes, mouth and tongue; with significant increased incidence of cancer in these same areas
Blindness resulting from eye lesions or surgery for skin cancer close to the eyes
Progressive neurological complications including:
developmental disabilities
mental retardation
high frequency hearing loss, progressing to deafness
de Sanctis-Cacchione syndrome (rare)
XP is very rare. Prevalence is estimated at 1:1,000,000 in the United States. Certain populations have a higher prevalence. For example, in Japan, the prevalence is estimated as 1:40,000. Prevalence is increased in North Africa (Tunisia, Algeria, Morocco, Libya, and Egypt) and the Middle East (Turkey, Israel, and Syria), especially in communities in which consanguinity is common.
Clinical diagnosis possible
Life threatening
The DNA damage is cumulative and irreversible
Up to 2000-fold increased risk of skin cancer, or pre-cancerous tumors and mouth and eye tumors
Other disorders associated with defective DNA repair
Ataxia-Telangiectasia
Bloom Syndrome
Cockayne Syndrome
Fanconi Anemia
Trichothiodystrophy (TTD)
Other disorders characterized by light sensitivity
Drug-induced photosensitivity
Erythropoietic Protoporphyria (EPP)
Lupus (30% of cases)
Polymorphous Light Eruption (PLE)
Porphyria (general)
There is no cure for XP. The DNA damage is cumulative and irreversible. Management is limited to avoidance of exposure to damaging UV radiation by staying indoors with sunlight blocked out, and use of protective clothing, sunscreens and sunglasses. Also, avoid other known carcinogens.
Symptoms, symptoms... sounds like something my coffee machine experiences before 9 AM. Hope whatever ailment is being discussed here got a speedy diagnosis! And hopefully, the solution wasn't just "turn it off and on again."
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XP is a rare, inherited disorder with severe dermatological, ocular, and neurological effects, Geometry Dash requiring strict protection from sunlight and careful medical management.
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