How Xeroderma Pigmentosum Is Treated

There is currently no cure for xeroderma pigmentosum (XP), a genetic condition in which DNA damaged by ultraviolet (UV) light does not get repaired. For those with this condition, ways to handle this disorder range from stringent prevention of UV exposure to skin cancer removal and treatment of related eye and neurological abnormalities.

This article will discuss the home and lifestyle remedies, over-the-counter treatments, prescription medications, and specialist-driven procedures that are used to treat and manage xeroderma pigmentosum.

Home Remedies and Lifestyle

Treatment at home centers around scrupulously avoiding the sun and keeping away from fluorescent lamps, which also bring UV risk. Those with XP are encouraged to do the following:

• Stay indoors during the day and participate in outdoor activities after dark.
• Protect skin by covering it with nonporous clothing such as long-sleeved shirts, long pants, high collars, and wide-brimmed hats.
• Wear sunscreen with a sun protection factor (SPF) of at least 50 on any exposed skin—the higher the SPF, the better.
• Protect your eyes with UV-blocking, wrap-around sunglasses.
• Use UV-blocking face shields.
• Use a UV light meter to check your home or school for UV levels and eliminate UV from the environment wherever possible.
• Place UV-blocking film on any windows in your home, school, workplace, or car since damaging UV rays can pass through glass.
• Avoid cigarette smoke, which is also known to damage DNA.
• Check your skin for any new marks or lesions that may be cancerous.

Over-the-Counter Therapies

In addition to buying preventive items at the drugstore, such as sunscreen and sunglasses or analgesics to deal with the pain of a sunburn, you can also pick up vitamin D, which is needed to build healthy bones.

Normally, the body creates vitamin D when exposed to the sun. Since those with XP need to avoid the sun, taking vitamin D supplements is necessary to prevent a vitamin D deficiency.

A supplement such as Heliocare that contains Fernblock, an extract of the fern Polypodium leucomotos, has been shown to help repair damage done by exposure to UV radiation. Fernblock is also used in topical sun-protection preparations.

Also, for those impacted by dry eyes from xeroderma pigmentosum, lubricating eye drops can be used to keep the cornea moist.

Prescriptions

For some severely affected patients, the prescription medication isotretinoin, an oral medication derived from vitamin A, may reduce the number of skin tumors that arise.

The downside is this medication is associated with severe side effects such as causing high levels of cholesterol and triglycerides in the blood, the potential to cause defects in developing fetuses, and painful calcium deposits on tendons and ligaments.

Surgeries and Specialist-Driven Procedures

For those with XP, surgeries to remove precancerous and cancerous lesions are a large part of surgical treatment. This means that ongoing screening is also an important part of the treatment process.

Those with XP should follow this screening routine:

• Every three to six months have your skin carefully checked by a professional who is trained to spot skin cancer.
• As often as possible, have a family member who knows the signs of skin cancer in those with XP look over any areas that may be hard to see for yourself.
• Go to an ophthalmologist (a doctor specializing in eye conditions) regularly for eye exams.
• Have your mouth examined regularly by a dentist who can spot any lesions.
• Go to your primary care healthcare professional for regular neurological evaluations.

Surgery for XP patients is a mainstay of treatment. Possible surgical procedures may include the following:

• Removal of premalignant (precancerous) lesions for patients with XP, such as by freezing with liquid nitrogen
• Application of topical creams such as Efudex (topical 5-fluorouracil) or Aldara (imiquimod) to treat larger areas of damaged skin
• Surgical excision or electrodessication of suspicious lesions for small areas on the extremities and trunk that require treatment
• Dermatome shaving and dermabrasion when there are larger areas of skin that need to be treated
• Mohs micrographic surgery to treat deep skin cancer in areas that require tissue-sparing such as the face
• Regrafting or replacing of large areas of skin with skin that has been protected from the sun
• X-ray therapy for inoperable cancers

XP patients can also have eye issues. Here are some treatment options if these arise:

• Soft contact lenses can be prescribed to protect the surface if eyelids begin rubbing against the eyes and causing irritation.
• Any cancers on the eyelids, the conjunctiva (the membrane covering the white of the eye), or cornea (clear dome at the front of the eye) can be surgically removed.
• If there is UV-induced eye damage, corneal transplantation can be considered. Still, success here may be limited because drugs needed to prevent transplant rejection may cause additional skin cancers.
• Topical chemotherapy agents can be applied for any cancers on the conjunctiva or sclera (white part of the eye).

Also, some XP patients may have neurological problems. Treatment for these include:

• Use of hearing aids for anyone with related hearing loss, which tends to get worse over time
• Use of cochlear implants to help some XP patients with severe hearing loss
• Help from special programs in schools for children with learning issues from XP, such as special education classes and occupational therapy

Summary

For those with XP, treatment for skin lesions and any eye-related or neurological symptoms remains limited. Preventive measures such as wearing protective clothing and sunscreen and avoiding UV exposure are the mainstays. Also, early removal of any precancerous or cancerous lesions that arise is key here and relies on frequent screening measures.

A Word From Verywell

While, currently, treatment options for XP are limited to prevent skin lesions or eye symptoms, the hope for the future is that a genetic treatment will be developed that will enable those with XP to enjoy the light without any consequences.