Xeroderma pigmentosum

Georges-CHARBEL HANNA - SOHEL KALAI

CHILDREN OF THE MOON, exploring this rare disease and its impacts

XERODERMA PIGMENTOSUM

what is it?

Xeroderma pigmentosum (XP) is a rare genetic disorder that affects the skin's ability to repair damage caused by ultraviolet (UV) radiation. People with this disease have extreme hypersensitivity to the sun, and are prone to skin lesions, freckles, and an increased risk of developing skin cancers at a young age.

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LET's explore the disease

Let's take a closer look at this complicated disease and find out how it works.

What is it? The role of genes in DNA distribution

Causes and biological mechanisms

Symptoms and diagnosis

Current treatments and challenges

Testimonials and awareness-raising

the role of genes in DNA distribution

DNA and UV damage: The DNA in our cells is constantly exposed to external aggressions, in particular ultraviolet (UV) rays.

Info

Causes and biological mechanisms

• In a person with XP, this system is defective. As a result:- Skin cells accumulate mutations with each exposure to the sun.- These mutations increase the risk of skin cancer, sometimes as early as childhood.- Eyes, exposed to light, also suffer similar damage, leading to chronic irritation and corneal damage.This mechanism illustrates why patients need to adopt extremely strict protective measures to avoid these complications.

but how does the disease manifest itself?

- Redness, blisters or eruptions after even brief exposure to the sun. - Early appearance of freckles, especially on exposed areas (face, hands). - Development of precancerous or cancerous skin lesions.

Symptoms often appear very early in life, sometimes as early as infancy, and include:

On the skin

On the eyes

- - Photophobia: extreme sensitivity to light - Frequent conjunctivitis and corneal ulceration. - Progression to chronic lesions and reduced vision.

Nervous system (20-30%)

- Cognitive delays. - Progressive hearing loss. - Movement coordination disorders.

This means that you can't “catch” it like an infection or transmissible disease. Here's how it's transmitted: Genetic transmission: XP is linked to mutations in several genes responsible for DNA repair. These mutations are transmitted by the parents in an autosomal recessive mode.

Xeroderma Pigmentosum (XP) is a hereditary genetic disease.

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Globally, this represents around 0.0001% to 0.00001% of the world's population.In high-prevalence areas (Japan, North Africa), this percentage can rise to around 0.01%.

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There is no cure for XP. Current measures are designed to protect patients from damage:

Current treatments and challenges

1. Strict sun protection

Covering clothing, sunglasses and high SPF sun creams.

2. Medical surveillance

Regular check-ups to detect pre-cancerous or cancerous lesions, which can be treated surgically.

3. Research in progress

Gene therapies to correct mutations and treatments to reinforce skin protection.

Testimonials and awareness-raising

• XP patients often testify to the difficulties of living out of the sun.
• For example: Marie, 12: “I have to play indoors while my friends are out, but I've learned to enjoy life in a different way.”
• Thomas, 34: “Constant vigilance is exhausting, but necessary to avoid complications. ”Awareness campaigns play a crucial role in informing the public and encouraging donations for research.

Funfact: People with Xeroderma Pigmentosum are often called “moon children” because they can only go out after dark to avoid UV rays. Some children even organize special night-time activities, like summer camps under the stars!

conclusion

• 🌙 “Children of the Moon” reminds us that, even when the sun is shining brightly, it's essential to find creative solutions to stay in the shade. Thanks to constant vigilance and appropriate protection, people with Xeroderma Pigmentosum can continue to dream, play and enjoy life under a starry sky. 🌟So next time you're out under the sun's rays, think of them and the importance of taking care of our skin - like real astronauts protecting their skin from the sun's rays! 🌞✨The adventure continues... away from the UV! 🚀

'“Your courage inspires, protect yourselves well, you are stars!” 🌟'

- Bastian

The life expectancy of Xeroderma Pigmentosum (XP) sufferers varies, but is often reduced by the high risk of skin cancer. With rigorous sun protection and medical supervision, some patients can live to 30-40 years of age, or even longer. If left untreated, skin cancers and neurological complications can reduce life expectancy to around 20 years.

• The formation of pyrimidine dimers, where two adjacent bases (thymine or cytosine) bond abnormally..
• These alterations prevent the cell from reading the DNA correctly, risking mutations.
• Cells possess a mechanism known as nucleotide excision repair (NER).This process detects lesions, excises the damaged areas, and fills in the gaps with a new, correct DNA sequence.
• This system is essential for preventing the accumulation of mutations and maintaining genetic integrity.

These rays can cause specific damage to ADN, such as: