Xeroderma Pigmentosum Definition, Reason, Symptoms, Treatment & Prevention

Xeroderma Pigmentosum Definition, Reason, Symptoms, Treatment & Prevention


Xeroderma pigmentosum (XP) is a skin disorder characterized by dry skin. In addition, skin color is darker or lighter than skin in general.

This disease is a rare disease. Originally discovered in 1874 by Hebra and Kaposi. Worldwide, only one person with xeroderma pigmentosum is found in every 250,000 people.

Japanese people are more prone to experience it than residents of other countries. Generally, xeroderma pigmentosum is diagnosed by a doctor when the patient is 1–2 years old.

XP is a genetically inherited disease. If one parent has this skin disorder, then their child will most likely also experience it.

This disease is related to cancer. More than half of xeroderma pigmentosum cases turn into malignant melanoma and squamous cell carcinoma. This causes almost half of people with this disease die at around 20 years of age.

Xeroderma Pigmentosum Symptoms

The skin of patients with xeroderma pigmentosum is very prone to burning when exposed to sunlight. Usually, people with this disease experience burns to the skin repeatedly.

Xeroderma pigmentosum disease develops in three stages. At first at birth, his skin looks healthy. The first stage of abnormalities usually appears when the patient is 6 months old. At that time the skin starts to look red, peels easily, and brown or black spots appear, especially in the facial area. Over time, the skin on the face, neck, and lower legs begins to look more tanned

The second stage is characterized by the presence of poikiloderma. Poikiloderma is a skin disorder characterized by the formation of new blood vessels in the skin that are shaped like worms (telangiectasis), the skin can turn brown or even turn white, and the blood vessels under the skin are clearly visible.

The third stage is when xeroderma turns into skin cancer, such as squamous cell carcinoma or malignant melanoma. Squamous cell carcinoma is characterized by sores on the skin that don’t heal. Meanwhile, malignant melanoma is characterized by a lump like a mole that is getting bigger, has uneven edges, and is asymmetrical. This skin cancer usually occurs in areas of the skin that are exposed to the sun a lot, for example on the face.

In addition to the skin, about 80% of xeroderma pigmentosus sufferers experience eye disorders in the form of eye irritation and the formation of connective tissue in the cornea which interferes with vision.

Xeroderma Pigmentosum Reason

Xeroderma pigmentosum occurs due to DNA damage. The DNA damage is thought to occur due to exposure to ultraviolet radiation on the skin. In addition, there are genetic factors that play a role in the occurrence of xeroderma pigmentosum, namely the GG-NER and TC-NER genes.


To confirm the diagnosis of xeroderma pigmentosus, doctors generally take a skin biopsy and examine it under a microscope. In addition, to find out the cause, genetic examination can also be done.

Xeroderma Pigmentosum Treatment

Treatment of xeroderma pigmentosum is carried out by skin and genital specialists. The main goal of treatment is to prevent skin cancer in sufferers.

To reduce the risk of skin cancer, xeroderma pigmentosum sufferers are advised to always use sunscreen when going out of the house. The recommended sunscreen has at least a sun protection factor (SPF) of 15. The use of this sunscreen is not only done in summer, but also when it rains and in winter. In addition, it is also recommended to wear clothes with long sleeves and long pants when traveling.

In addition, oral retinoid drugs have also been shown to reduce the risk of skin cancer. However, the use of this drug must be done very carefully considering the side effects are quite a lot.

If cancer has already occurred, it is best to have it treated as early as possible. Cancer treatment is done by performing surgical excision (removal of all tumor tissue). If the cancer is found in an advanced stage, chemotherapy and radiation are also needed.


Until now there is no action that can be done to prevent xeroderma pigmentosum.

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