While sunlight is an important energy source for our health, it can present a risk for some rare diseases. Xeroderma Pigmentosum, also known as sunlight prohibition disease, is an inherited skin condition. It is a genetic disease characterized by the unrepairable DNA damage to skin cells when exposed to ultraviolet (UV) light. Treatment options include skin protective measures, regular skin examinations, and in some cases, surgical intervention.
What is Sunlight Prohibition Disease (XP Disease)?
Sunlight prohibition disease is a rare, inherited multisystem disorder that causes extreme sensitivity to sunlight and is associated with mutations in at least nine genes. This disease is also known as XP and can generally lead to extreme sensitivity to sunlight, eye problems, and neurological symptoms.
Upon contact with sunlight, symptoms such as redness and freckling, which leads to severe burns, may appear on the skin. The symptoms generally affect tissues routinely exposed to the sun such as the arms, face, and lips.
Causes and Risk Factors of XP Disease
XP disease, medically known as Xeroderma Pigmentosum, is an inherited disease arising due to a defect in the DNA repair system. Normally, ultraviolet (UV) rays from sunlight cause DNA damage in our skin. In healthy individuals, this damage is quickly repaired by specific enzymes. However, in XP patients, mutations in genes responsible for DNA repair prevent this damage from being repaired, resulting in its accumulation in cells.
The origins of sunlight prohibition disease may also be tied to other health issues. Factors that hinder exposure to sunlight include genetic disorders. Genetic disorders such as porphyria can increase sensitivity to sunlight, resulting from abnormalities in the body's process of hemoglobin production.
What is De Sanctis-Cacchione Syndrome?
Sunlight prohibition disease is a health issue associated with neurological disorders, intellectual disability, dwarfism, and underdeveloped genital organs. This disease, related to De Sanctis-Cacchione syndrome, often manifests in skin and eye symptoms, usually appearing as extremely dark or light skin. Skin symptoms may also include complete loss of color or excessive scar formation at times.
Besides lesions similar to burns, red skin lesions resulting from abnormal growth of small blood vessels close to the surface may also appear. Skin durability may decrease, becoming easily damaged. Degenerative changes may occur in the skin, which may appear very dry.
What are the Symptoms of Sunlight Prohibition Disease?
Symptoms of XP disease can start in the early years of childhood. Abnormal skin reactions are observed after exposure to sunlight:
Skin Symptoms of XP Disease
Early and distinct findings of XP disease emerge on the skin:
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Freckle and Spot Formation: Numerous freckles and dark spots can develop in sun-exposed areas such as the face, neck, and hands.
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Skin Dryness and Peeling: The skin may become thin, hard, and start to flake off.
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Reactions Similar to Sunburn: Short-term sun exposure can cause severe redness, swelling, and blistering.
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Risk of Skin Cancer: Skin cancers can appear before the age of 10. Therefore, regular dermatological checks must be performed.
Eye Symptoms of XP Disease
The eyes are frequently affected in XP patients due to sensitivity to UV light:
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Photophobia (Extreme Sensitivity to Light): The eyes become uncomfortable in bright light, and the patient may constantly squint.
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Chronic Eye Inflammation (Conjunctivitis): Continuous watering, redness, and a stinging sensation in the eyes may be observed.
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Pigment Changes on Eyelids: Discolorations, thickening, and peeling may occur on the skin.
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Corneal Damage: Over time, the cornea may become cloudy, leading to vision loss.
Neurological Symptoms of XP Disease
In some types of XP, the nervous system may also be affected. Neurological symptoms do not appear in every patient; they may emerge in advanced stages or certain genetic subtypes:
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Developmental Delay: There may be a slowdown in motor and mental development.
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Coordination Disorder (Ataxia): Walking and balance issues may develop.
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Hearing Loss: Affected auditory nerves may lead to progressive deafness.
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Muscle Weakness and Loss of Reflexes: Progressive nerve damage may result in muscle weakness.
What is the Difference Between Sun Allergy and XP Disease?
Both sun allergy and XP disease cause skin issues when exposed to sunlight, but their causes and outcomes differ. Sun allergy arises from the immune system's overreaction to UV rays, leading to itching, redness, and bumps on the skin, which are usually temporary and may not cause permanent damage.
XP disease, on the other hand, is associated with a genetic defect in DNA repair. In this disease, DNA damage caused by UV rays cannot be repaired, increasing the risk of skin cancer. Individuals with sunlight prohibition disease are at greater risk when exposed to sunlight.
The onset and progression of the diseases also differ. Sun allergy usually begins after adolescence and can change throughout life, whereas XP disease generally starts in infancy and early childhood and is progressive.
In XP disease, additional symptoms such as eye and neurological involvement can be observed, while sun allergy only causes symptoms on the skin.
Treatment Options for Sunlight Prohibition Disease
Medications play an important role in the treatment process. Antihistamines are used to reduce itching and redness. Corticosteroids help alleviate inflammation in the skin. Special drugs may be preferred to reduce photosensitivity in some genetic diseases.
Attempting to lessen sensitivity to sunlight by applying low doses of ultraviolet rays to the skin through the phototherapy technique can help protect the skin from UV light.
Protective measures such as sunscreens with high protection factors, UV-filtered clothing, and sunglasses can protect the skin from the harmful effects of the sun.
How Can Sunlight Prohibition Disease Be Managed in Daily Life?
Sunlight prohibition disease (Xeroderma Pigmentosum) requires strict protection and planning in daily life. The basic principle for patients and families is to minimize exposure to UV rays. Therefore, if going outside is necessary, early morning or late afternoon when sunlight is lower can be preferred.
Preventive clothing should also be worn. Long-sleeved clothes covering the entire body, wide-brimmed hats, and UV-protective glasses should be indispensable parts of daily life. Clothes and masks made from special UV-blocking fabrics can provide additional protection.
For skin protection, high-factor sunscreens should be used regularly. SPF 50+ protective creams should be applied to every exposed area and renewed periodically in cases of sweating or wiping.
House arrangements should be organized to support protection from UV. UV-filtered window films or thick curtains can be added to windows.
Awareness can be raised for school and social life. Teachers, caregivers, and people around should know the seriousness of the disease and can share the responsibility to protect the child.
Regular dermatology and eye checks should not be neglected. Early detection of skin changes or eye problems allows for quick initiation of treatment, significantly reducing the disease's complications.
Frequently Asked Questions
Why does sunlight prohibition disease affect eye health?
In sunlight prohibition disease, the tissues on the surface of the eye are as sensitive to ultraviolet rays as the skin. UV rays cause permanent DNA damage in the cells of the cornea and conjunctiva, leading to chronic inflammation, dryness, extreme sensitivity to light, and eventual vision loss. Therefore, XP patients may need to use UV-protective glasses.
How do individuals with sunlight prohibition disease meet their vitamin D needs?
Individuals with sunlight prohibition disease may experience vitamin D deficiency as they must avoid the sun. Therefore, regular blood tests are conducted to monitor vitamin D levels. Vitamin D supplements can be taken upon a doctor's recommendation.
What are the psychological impacts of XP disease?
The constant need for protection, social limitations, and changes in appearance can cause psychological pressure on both children and adult patients. Particularly during adolescence, self-esteem, confidence, and peer relationships can be negatively affected. Psychological support and family counseling can help them navigate this process more healthily.
Is sunlight prohibition disease (XP disease) contagious?
No, XP disease is absolutely not contagious. As a hereditary disease, it only appears when recessive genes from the parents are passed on to the child.