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, symptoms 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, sufferers xeroderma pigmentosum susceptible to skin cancer and eye cancer.
Reason Xeroderma Pigmentosum
Xeroderma pigmentosum 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 commonly found are mutations in the gene XPC, ERCC2, and POLH.
This rare skin disorder is usually inherited from parents to children in an autosomal recessive manner. That is, even though none of the parents have experienced it xeroderma pigmentosum, if both have mutations in the above gene, the child's risk of developing this disease is 25% in each pregnancy.
Symptom Xeroderma Pigmentosum
Symptom xeroderma pigmentosum usually can be detected during infancy or in the first 3 years of life. Some symptoms xeroderma pigmentosum What you need to know is:
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. These signs 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 color of the surrounding skin.
In addition, some of the symptoms xeroderma pigmentosum What happens to the skin is:
- Burning, redness, pain, and even blisters that can last for weeks
- Thin and fragile skin
- Skin full of scar tissue
- The skin appears streaks of small blood vessels (telangiectasia)
Symptoms in the eye
The most common symptoms of xeroderma pigmentosum What appears in the eyes is that the eyes become sensitive (photophobia), pain, and even redness when seeing light.
In addition, other symptoms that can occur include:
- Inflammation of the cornea and the white part of the eye (sclera)
- Excessive tear production
- Inflammation of the eyelids
- The eyelids fold in (entropion) or out (ectropion)
- The lens of the eye becomes cloudy
If the degree of damage to the eye and surrounding skin is severe, xeroderma pigmentosum can cause blindness.
Symptoms on the nervous system
About 1 in 4 sufferers xeroderma pigmentosum have problems with the nervous system that can get worse over time. Some of the effects can even be seen clearly from birth.
Here are the symptoms xeroderma pigmentosum caused by disorders of the nervous system:
- Small head size (microcephaly)
- Slow or non-existent reflex movements
- Poor motor skills
- Developmental delay
- 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 sufferers xeroderma pigmentosum. So, each patient may show different symptoms.
can Xeroderma Pigmentosum Healed?
Until now, there is no medicine that can cure the disease 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 sufferers xeroderma pigmentosum have 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
- Use sunscreen cream or clothes that cover the whole body every time you leave the house when the sun is shining
- Wear 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
In addition, regular skin and eye examinations are also important things 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 undergoing a variety of tips as above, sufferers xeroderma pigmentosum is expected to still be able to get a good quality of life, although there are some limitations.
If you or your child experience xeroderma pigmentosum and need further explanation, do not hesitate to consult a dermatologist to get the best treatment advice in controlling this disease.
