Xeroderma Pigmentosum

By | June 10, 2022

Xeroderma pigmentosum, also known as moonlight disease, is a skin disease caused by a genetic defect. Affected people have a pronounced UV intolerance and therefore usually have to avoid sunlight completely. The disease is so far incurable.

Xeroderma pigmentosum is a very rare, genetic disease of the skin and mucous membranes, which is primarily characterized by hypersensitivity to ultraviolet light (UV light). Xeroderma pigmentosum has an infaust (unfavorable) course, which is usually characterized by skin cancer.

What is xeroderma pigmentosum?

Xeroderma pigmentosum is a serious skin disease that manifests itself through neurological deficits and, above all, pronounced UV intolerance. For meaning of lactic acidosis in English, please visit sportingology.com.

This leads to painful skin inflammation, which later develops into malignant ulcers. Since the disease often leads to early death in the first decade of life, those affected are usually children, colloquially known as moonlight children.

However, cases are also known in which those affected reached the age of 40. Xeroderma pigmentosum occurs very rarely; however, there are strong regional differences. In Germany, around 50 children have the genetic defect, in the United States there are around 250.

Moonlight disease is therefore a genetic disease that manifests itself in childhood as a result of hypersensitivity of the skin and mucous membranes to UV light. Correspondingly, typical symptoms of xeroderma pigmentosum are excessive sunburn reactions in the form of inflammation even after very brief contact with sunlight (especially face, hands, arms), prematurely aging skin that is wrinkled and pigmented brown-reddish or freckle – like, and tumors on the skin and Eyes that can become malignant as the disease progresses ( squamous cell carcinoma, melanoma, basal cell carcinoma ).

Xeroderma pigmentosum also causes telangiectasia (widening of the small blood vessels), keratitis ( corneal inflammation ) and neurological disorders ( sensitivity disorders, movement disorders, hearing loss) in about one fifth of those affected. Depending on the specific expression of the present genetic defect, a total of seven or eight forms of xeroderma pigmentosum (A to G and V) can be differentiated.


Xeroderma pigmentosum is caused by a genetic defect that is inherited in a recessive manner. The so-called repair enzymes of the DNA are damaged here and cannot be repaired as in healthy people caused by UV radiation.

Xeroderma pigmentosum is due to an autosomal recessive genetic defect in the DNA repair system, which means that the DNA damage caused by UV light can no longer be repaired by the skin and mucous membrane cells. The UV-B rays that are not filtered out by the Earth’s atmosphere cause the synthesis of thymidine dimers in skin cells, which represent a combination of two thymidine building blocks.

In a healthy organism, these compounds, which are harmful to cells, are recognized by a DNA repair system made up of enzymes and removed from the DNA. Since this repair system is disrupted by a genetic defect in xeroderma pigmentosum and a lack of the DNA repair enzymes or DNA repair enzymes involved in this process

If DNA endonucleases are present, these connections are not broken down, so that the affected skin or mucous membrane cells die or can degenerate into cancer cells. Accordingly, xeroderma pigmentosum is often accompanied by skin cancer in childhood.

Any exposure to the sun therefore leads to painful inflammation that cannot regenerate on its own. Doctors divide the disease into different types, depending on where exactly the defective gene is located.

Some of these types of diseases are characterized not only by the hypersensitivity to sunlight already mentioned, but are also associated with neurological disorders such as hearing loss, movement disorders or even a significant reduction in intelligence. In order for a child to be born with xeroderma pigmentosum, both parents must be predisposed to it.

Symptoms, Ailments & Signs

Xeroderma pigmentosum is manifested by such symptoms as extreme sensitivity to light, pigment changes in the skin, eye disorders, neurological problems, and constant recurrence of skin tumors. Sensitivity to light is already noticeable in infancy.

After a short exposure to light, severe sunburn often occurs with blistering that is difficult to heal. The face, arms or legs are particularly affected. In some patients, however, the skin initially remains normal after exposure to the sun. However, all those affected later develop a large number of so-called birthmarks, which are diagnosed as both benign and malignant skin tumors.

The majority of malignant tumors are basal cell carcinomas, followed by spinal cell carcinomas and melanomas. As a rule, basal cell carcinomas do not form metastases. However, they often lead to disfigurement of the face and the affected areas. Melanomas in particular grow very aggressively and are often the cause of the premature death of patients. Sometimes the first symptom of xeroderma pigmentosum is sensitivity of the eyes to light.

The patient initially reacts very light-shy. Chronic inflammation of the cornea and conjunctiva occurs later. The eyesight decreases. Later there is even a risk of complete loss of sight. Tumors can also develop in the eyes. Spinaliomas are most frequently observed there. During the course of the disease, some of the patients also experience progressive neurological symptoms, which can manifest themselves as intellectual disability, paralysis and movement disorders.

Diagnosis & History

Xeroderma pigmentosum is usually diagnosed based on the symptoms that occur. If xeroderma pigmentosum is suspected, the doctor treating you can perform a DNA test to determine the exact type of disease and then treat it appropriately.

Blood and/or skin analyzes can provide information about how well the skin cells are able to repair DNA damage after exposure to UV light. A genetic analysis can also be used to determine which form of xeroderma pigmentosum is present in the person affected. Xeroderma pigmentosum has an unfavorable (unfavorable) prognosis, since malignant tumors usually appear in the advanced course of the disease and before the age of 20.

With early diagnosis and consistent application of protective measures against UV light, however, this can be positively influenced and more than two thirds of those affected by xeroderma pigmentosum reach the age of 40.

The first signs of xeroderma pigmentosum are severe sunburn or inflammation that occurs very quickly. The skin discolours, dries out and ages quickly. From the inflammations that do not heal properly, malignant tumors of the skin, but also of the eyes, develop in the further course.

Due to this rapid formation of cancer cells, the life expectancy of those affected is rather low. However, the exact prognosis depends on the type of disease and whether it is recognized in good time.


The disease Xeroderma pigmentosum can significantly restrict the everyday life of those affected and thus also reduce the quality of life. Those affected primarily suffer from a very high sensitivity to sunlight, so that even brief exposure to it causes burns and discolouration of the skin. Spots and redness form on the skin, which can also be accompanied by itching.

The skin itself appears shriveled by xeroderma pigmentosum and may be covered with scars. In many cases, the patients are ashamed of the symptoms, so that inferiority complexes and thus a significantly reduced self-esteem in the patient can often occur. In children in particular, the symptoms can also lead to bullying or teasing, so that they develop psychological problems.

The skin can also become inflamed. Those affected also very often suffer from sunburn as a result of the disease, which means that they are always dependent on sun protection or protective clothing. Since xeroderma pigmentosum cannot be cured causally, only the individual symptoms can be treated. There are no special complications, although a positive course of the disease does not occur. The disease may also reduce the life expectancy of the patient.

When should you go to the doctor?

People who are exposed to intense sunlight often suffer from sunburn. It is not always necessary to consult a doctor. In most cases, self-help measures are sufficient to achieve the fastest possible relief. In addition, it should be checked whether changes and optimizations can be made in dealing with direct sunlight on the skin. Sun protection creams can be applied as a preventive measure and exposure to direct UV light should be minimised. If, despite all efforts, burns or pain occur disproportionately quickly when the skin is exposed to the sun, a doctor’s visit is necessary.

Sensitivity to light, impaired vision or changes in the pigmentation of the skin are signs of a disease. A doctor’s visit is necessary so that the causes can be determined and a diagnosis can be made. A withdrawal from social life, behavioral problems or mood swings are indications of a health disorder.

Treatment & Therapy

If xeroderma pigmentosum remains untreated, the life expectancy of those affected is only a few years. Therefore, it is essential to consult a doctor at the first suspicion and, if the diagnosis is made, to take appropriate steps.

Xeroderma pigmentosum cannot be cured; Appropriate treatment can often significantly increase the life expectancy of those affected. This includes consistently avoiding sunlight. The sick are not allowed to leave the house during the day or only with UV-resistant special clothing. The windows must also be darkened accordingly and covered with UV-resistant film.

In the case of xeroderma pigmentosum, the therapeutic measures have so far been limited to minimizing the symptoms and preventing skin cancer through consistent protective measures against UV light and regular check-ups by the dermatologist ( dermatologist ). These primarily include avoiding daylight (moonlight children), wearing appropriate protective clothing, especially on the arms, neck and face, as well as UV glasses and sunscreen with a very high sun protection factor.

In addition, it is recommended to have the windows of rooms in which those affected spend more time and longer during the day coated with a special UV light protection film. Promising results have been achieved in clinical tests with a liposome lotion that is applied to the skin and through which DNA repair enzymes are supplied locally from the outside. In those affected by xeroderma pigmentosum, a significant reduction in the thymidine dimer content and thus the skin damage induced by this could be determined, although no complete normalization with regard to sensitivity to UV light could be achieved.

However, the tests for this therapeutic approach to xeroderma pigmentosum have been stopped for the time being due to a lack of money. In addition, attempts are being made within the framework of genetic engineering to replace diseased skin areas with healthy skin cells (e.g. from the buttocks area) that have been provided with functional DNA repair mechanisms or a normal copy of the defective gene. However, this treatment method for xeroderma pigmentosum is still in an early research phase.

The need for these drastic measures usually entails severe social isolation, not least because of society’s lack of understanding. Regular visits to the doctor with comprehensive examinations of the skin and eyes can prevent the development of malignant ulcers. Since the skin of those affected is generally very sensitive, it often has to be creamed and given special care.

If sunburn or inflammation has occurred, painkillers can be administered temporarily. However, the exact type of treatment always depends on the type of disease and the individual characteristics.


Since xeroderma pigmentosum is a disease that is hereditary, it cannot actually be prevented. If the genetic defect is present in potential parents, they should seek detailed advice from a gynecologist before becoming pregnant. If the disease is diagnosed in a child, appropriate medical steps should be taken as soon as possible so that the affected person can live as long and largely symptom-free as possible.


Xeroderma pigmentosum is an incurable disease. There is no treatment for the disease. Those affected should avoid or at least significantly reduce any contact with UV rays. Solariums may not be used under any circumstances. Increasing the radiation there would only aggravate the symptoms and, in general, the condition of those affected.

Sun exposure should also be avoided. The everyday life of those affected is significantly restricted by the sick. All activities and work must be adapted to the disease. Those affected should not go outside without appropriate sun protection. Especially in summer, those affected must be extremely careful and not make any ill-considered decisions.

Those affected have to put on special UV protection cream that prevents the rays from penetrating into the organism. Clothing should also be adapted to the disease. The body should be completely covered. For example, hats protect the face from the penetration of UV rays.

The body should be covered with long pants and long tops. The disease represents a great burden for those affected. Sometimes it is advisable to undergo permanent psychological counseling for dealing with the disease. Victims should also seek help and support from family members whenever possible.

You can do that yourself

This condition requires the sufferer to minimize or avoid exposure to UV rays. As a result, the quality of life is severely impaired. Natural and artificial UV light may therefore only be absorbed according to the possibilities and circumstances of the organism. Offers such as solariums should be avoided completely. The UV light there would lead to a rapid increase in the problems. Direct sunlight should also be avoided.

In everyday life, the planning of leisure activities or professional activities must be adjusted accordingly. The patient should never be without an appropriate sunscreen leave the house. In the summer months in particular, no careless actions should be taken. The skin should be protected with creams that reduce or block the penetration of UV rays into the body. In addition, clothing should be adjusted. It is advisable to almost completely cover the body with fabrics or protective accessories. Hats or sunshades will help prevent exposure to UV rays on the face. The other parts of the body can be well covered by wearing long pants or long tops. At the same time, it is important to ensure that the clothing is air-permeable and does not lead to a feeling of constriction.

Since the disease represents a strong emotional burden, mental strength should be supported by cognitive exercise units.

Xeroderma Pigmentosum