Table of contents:
- Causes of Xeroderma Pigmentosum
- Symptoms of Xeroderma Pigmentosum
- Can Xeroderma Pigmentosum Be Cured?
Xeroderma pigmentosum is a genetic disorder that causes sufferers to be very sensitive to sunlight. Xeroderma pigmentosum is a rare disease that is estimated to affect 1 in 250,000 people worldwide
Because it is a genetic disorder, the symptoms of xeroderma pigmentosum can be seen from infancy. Complaints will arise from areas that are often exposed to sunlight, namely the skin and eyes. If not treated properly, people with xeroderma pigmentosum will be susceptible to skin cancer and eye cancer.
Causes of Xeroderma Pigmentosum
Xeroderma pigmentosum is generally caused by mutations in genes that inhibit the repair of damaged DNA. The presence of these gene mutations makes the body unable to repair or replace DNA damaged by exposure to solar radiation.
There are at least 8 types of gene mutations that can cause xeroderma pigmentosum. However, the most common were mutations in the XPC, ERCC2, and POLH genes.
This rare skin disorder is usually inherited from parents to children in an autosomal recessive manner. This means that even if neither parent has xeroderma pigmentosum, if both have mutations in the above gene, the child's risk of developing this disease is 25% in each pregnancy.
Symptoms of Xeroderma Pigmentosum
Symptoms of xeroderma pigmentosum can usually be detected during infancy or in the first 3 years of life. Some of the symptoms of xeroderma pigmentosum that you need to know are:
Symptoms on the skin
The appearance of spots on the skin of a baby or toddler exposed to the sun is a common sign of xeroderma pigmentosum. The markings can include the face, neck, arms, and legs.
Another sign that can also occur is a change in pigmentation that causes patches of skin that are very dark (hyperpigmentation) or patches of skin that are very light (hypopigmentation) compared to the surrounding skin tone.
In addition, some of the symptoms of xeroderma pigmentosum that occur on the skin are:
- Skin burning, redness, pain, even blisters that can last for weeks
- Thin and fragile skin
- Skin full of scar tissue
- Skin looks like streaks of small blood vessels (telangiectasia)
Symptoms of the eye
The most common symptoms of xeroderma pigmentosum that appear in the eyes are sensitive eyes (photophobia), pain, and even redness when looking at light.
In addition, other symptoms that can occur include:
- Inflammation of the cornea and white part of the eye (sclera)
- Excess tear production
- Inflammation of the eyelids
- The eyelids fold inward (entropion) or outward (ectropion)
- eye lens becomes cloudy
If the level of damage to the eyes and surrounding skin is severe, xeroderma pigmentosum can cause blindness.
Symptoms of the nervous system
About 1 in 4 sufferers of xeroderma pigmentosum experience problems with the nervous system that can get worse over time. Some of the effects can even be seen clearly from birth.
The following are the symptoms of xeroderma pigmentosum caused by nervous system disorders:
- Small head size (microcephaly)
- Slow or even absent reflex movements
- Poor motor skills
- Delayed growth
- Stiff or weak muscles
- Poor body movement control (ataxia)
- Hearing loss that can progress to deafness
Not all of the symptoms mentioned above can occur in patients with xeroderma pigmentosum. So, each patient may show different symptoms.
Can Xeroderma Pigmentosum Be Cured?
Until now, there is no medicine that can cure xeroderma pigmentosum. Various treatments given by doctors only aim to reduce symptoms and prevent complications.
Staying away from sun exposure is the most effective step. However, it is also impossible for people with xeroderma pigmentosum to stay indoors every day. Therefore, the patient's daily lifestyle must be modified, so that his activities can continue without worsening his condition.
Some things that must be implemented include:
- Reduce outdoor activities during the day, except in urgent circumstances, such as visiting the hospital
- Using sunscreen cream or clothes that cover the whole body whenever going out of the house when the sun is shining
- Use a hat and sunglasses every time you leave the house when the sun is still shining
- Avoid exposure to cigarette smoke because it can worsen skin damage
Besides that, doing regular skin and eye examinations is also an important thing that should not be forgotten. This will be very helpful in treating the symptoms that arise, as well as identifying and eliminating cancer growths early, both in the skin and eyes.
By following the various tips above, it is hoped that patients with xeroderma pigmentosum can still get a good quality of life, even though there are some limitations.
If you or your child has xeroderma pigmentosum and need further explanation, don't hesitate to consult a dermatologist for advice on the best treatment to control this disease.