What Causes Xeroderma Pigmentosum And How Can It Be Treated?

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Xeroderma pigmentosum is a sparse condition that is inheritable. It’s passed down from parents to offspring, it’s one of those genetic diseases that might end up ruining a child’s life. Other genetic disorders include Sickle Cell Disease, Cystic Fibrosis, Tay-Sachs, Hemophilia, Huntington’s Disease, and Muscular Dystrophy.

Xeroderma pigmentosum is rare, mostly because it’s inherited from both parents. It’s an autosomal recessive inherited disorder, you must have 2 copies of an abnormal gene for this condition to manifest. It’s unlikely for a person with Xeroderma pigmentosum to pass it to the next generation; it has to be both parents having the condition. Though it’s also possible for the former to happen.

Symptoms of Xeroderma Pigmentosum start to become clear enough when the child is two years old. Xeroderma pigmentosum affects the skin, eyes, and nervous system. The first stage occurs around 6 months after birth (the skin appears normal at birth). Areas exposed to the sun, such as the face, show reddening of the skin with scaling and freckling. Irregular dark spots may also begin to appear. These skin changes progress to the neck and lower legs, and in severe cases, to the trunk.

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Skin symptoms sunburn that doesn’t seem to heal just after a bit of sun exposure. When you have this rare disease, you must protect your skin from the sun. Extreme precautions must be taken to avoid sunburns that’ll cause fatal effects. Why does the skin burn even after the smallest exposure to the sun? Well, individuals who have XP need this extreme protection because their bodies can not protect them from UV light. Of course, this happens because they inherit genes that prevent their bodies from repairing damage caused by UV light.

Other skin symptoms include blistering after just a little bit of sun exposure. Aside from the sunburn, they will feel the heat of the sun even when it isn’t so sunny. Spider blood vessels will also appear under the skin, atches of discolored skin that get worse, resembling severe aging, crusting, and scaling of the skin. XP can also cause skin cancer at a very young age (including melanoma, basal cell carcinoma, and squamous cell carcinoma).

It generally makes the skin lose its moisture and makes it vulnerable. When either of these skin symptoms kicks in, it shouldn’t be taken lightly, as the most common cause of death in xeroderma pigmentosa patients is skin cancer, at 34%, followed by cancer of internal organs, at 17%. Progressive neurodegeneration can be a direct cause of death in approximately one third of patients.

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Dry and cloudy eyes are among the symptoms. Having a dry and cloudy eye at a young age will be uncomfortable. The child won’t have to do things like other kids. Swellings or inflammation of the eyelids, which can also be seen as cancer of the eyelid,

They also affect the nervous system (neurologic) and make the child develop symptoms that would make them ruled out of normal society. Symptoms like intellectual disability, delayed growth, loss of hearing, muscle weakness of the legs and arms are all needed for growth and development, but that particular child won’t have any part of it. People who have XP also tend to develop photophobia (discomfort when being in bright light).

Can Xeroderma Pigmentosum be treated?

Yes, it can be treated. People with XP wear protective gear on their skin and eyes to keep them away from light. Using a sunscreen with the highest SPF you can find, wearing sunglasses to block UVA and UVB rays, and wearing long sleeves and trousers are also helpful.

In order to prevent skin cancer from Xeroderma pigmentosum, you’ll consult your medical professional, who will prescribe medicines such as a retinoid cream to apply to the skin. If skin cancer still develops even after that procedure, surgery or other methods will be done to remove the cancer. A study showed that over one-half of people with this condition die of skin cancer early in adulthood. If you or your child has symptoms of XP, call for an appointment with your medical practitioner.

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More information and support for people with XP and their families can be found below.

National Organization for Rare Disorders 

Xeroderma Pigmentosum Society




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