Tips for Choosing Soy Milk for Children

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 frequently exposed to the sun, namely the skin and eyes. If not handled properly, people with xeroderma pigmentosum will be prone to skin cancer and eye cancer.

Tips for Choosing Soy Milk for Children

Causes of Xeroderma Pigmentosum

Xeroderma pigmentosum generally caused by mutations in genes that inhibit the repair activity of the damaged DNA. The existence of these gene mutations makes the body unable to repair or replace DNA damaged by exposure to sunlight.

There are at least 8 types of gene mutations that can cause Xeroderma pigmentosum. However, the most common are mutations in the genes XPC, ERCC2 and POLH.

These rare skin disorders are usually passed from parents to children in an autosomal recessive manner. This means, even if the parents do not have xeroderma pigmentosum, if both of them have mutations in the above genes, 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:

Skin symptoms

The appearance of spots on the skin area of ​​infants or toddlers sun exposure 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 results in very dark (hyperpigmented) skin patches or very light (hypopigmented) skin patches in comparison with the surrounding skin color.

In addition, some of the symptoms of Xeroderma pigmentosum that occur on the skin are:

  • Burning, redness, pain, even blisters that can last for weeks
  • Thin and fragile skin
  • Skin is full of scar tissue
  • The skin shows streaks of small blood vessels (telangiectasis)

Eye symptoms

The most common symptom of xeroderma pigmentosum that appears in the eye is sensitive eyes (photophobia) , pain, even redness when seeing light.

In addition, other symptoms that can occur include:

  • Inflammation of the cornea and the whites of the eye (sclera)
  • Excess tear production
  • Inflammation of the eyelid
  • The eyelid creases in (entropion) or out (ectropion)
  • The lens of the eye becomes cloudy

If the level of damage to the eye and surrounding skin is severe, xeroderma pigmentosum can cause blindness.

Symptoms of the nervous system

About 1 in 4 people with Xeroderma pigmentosum have problems with the nervous system that can worsen over time. Some of the effects can be seen since birth.

The following are the symptoms of xeroderma pigmentosum caused by nervous system disorders:

  • Small head size ( microcephaly)
  • Slow or absent reflex movements
  • Poor motor skills
  • Delayed development
  • Muscle stiffness or weakness
  • Poor body movement control (ataxia)
  • Hearing loss that can develop into deafness

Not all of the symptoms mentioned above can occur in sufferers xeroderma pigmentosum . So, each patient may show different symptoms.

Can Xeroderma Pigmentosum Be Cured?

Until now, no there is a drug 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 of Xeroderma pigmentosum to stay indoors every day. Therefore, the patient's daily lifestyle must be modified, so that their activities can continue without worsening their condition.

Several things that must be implemented include:

  • Reducing outside activities room during the day, except when you are in urgent situations, such as visiting the hospital
  • Using sun cream or covering your body whenever you go outside when the sun is shining
  • Wearing a hat and sunglasses every time you leave the house while the sun is still shining
  • Avoiding exposure to cigarette smoke because it can worsen skin damage

In addition, routine skin and eye examinations are also important must not be forgotten. This will be very helpful in treating symptoms that arise, as well as identifying and eliminating cancer growths early, both on the skin and in the eyes.

By following the various tips as above, sufferers of xeroderma pigmentosum It is hoped that you can still get a good quality of life, although there are some limitations.

If you or your child has Xeroderma pigmentosum and need further explanation, do not hesitate to consult a dermatologist for receive the best treatment advice in controlling this disease.

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