Xeroderma pigmentosum
Xeroderma pigmentosum (XP) is a rare condition passed down through families. XP causes the skin and tissue covering the eye to be extremely sensitive to ultraviolet (UV) light. Some people also develop nervous system problems.
Causes
XP is an autosomal recessive inherited disorder. This means you must have 2 copies of a variant gene in order for the disease or trait to develop. The disorder is inherited from both your mother and father at the same time. The variant gene is rare, so the chances of both parents having the gene are very low. For this reason, it is unlikely for somebody with the condition to pass it on to the next generation, although it is possible.
Autosomal recessive inherited disorder
Autosomal recessive is one of several ways that a genetic trait, disorder, or disease can be passed down through families. An autosomal recessive dis...
UV light, such as from sunlight, damages the genetic material (DNA) in skin cells. Normally, the body repairs this damage. But in people with XP, the body does not fix the damage. As a result, the skin gets very thin and patches of varying color (splotchy pigmentation) appear.
Symptoms
Symptoms usually appear by the time a child is 2 years old.
Skin symptoms include:
- Sunburn that does not heal after just a little bit of sun exposure
-
Blistering after just a little bit of sun exposure
Blistering
A vesicle is a small fluid-filled blister on the skin.
ImageRead Article Now Book Mark Article - Spider-like blood vessels under the skin
- Patches of discolored skin that get worse, resembling severe aging
- Crusting of the skin
-
Scaling of the skin
Scaling
Scales are a visible peeling or flaking of outer skin layers. These layers are called the stratum corneum.
ImageRead Article Now Book Mark Article - Oozing raw skin surface
- Discomfort when being in bright light (photophobia)
- Skin cancer at a very young age (including melanoma, basal cell carcinoma, squamous cell carcinoma)
Melanoma
Melanoma is the most dangerous type of skin cancer. It is also the rarest. It is the leading cause of death from skin disease. Other common types o...
ImageRead Article Now Book Mark ArticleBasal cell carcinoma
Basal cell cancer is the most common form of cancer in the United States. Most skin cancers are basal cell cancer. Other common types of skin cancer...
ImageRead Article Now Book Mark ArticleSquamous cell carcinoma
Squamous cell skin cancer is the second most common type of cancer in the United States. Other common types of skin cancer are:Basal cell cancerMelan...
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Eye symptoms include:
- Dry eye
-
Clouding of the cornea
Clouding of the cornea
A cloudy cornea is a loss of transparency of the cornea.
ImageRead Article Now Book Mark Article -
Ulcers of the cornea
Ulcers of the cornea
The cornea is the clear tissue at the front of the eye. A corneal ulcer is an open sore in the outer layer of the cornea. It is often caused by inf...
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Swelling or inflammation of the eyelids
Swelling or inflammation of the eyelids
Blepharitis is manifest by inflamed, irritated, itchy, and reddened eyelids. It most often occurs where the eyelashes grow. Dandruff-like debris bu...
ImageRead Article Now Book Mark Article - Cancer of eyelids, cornea or sclera
Nervous system (neurologic) symptoms, which develop in some children, include:
-
Intellectual disability
Intellectual disability
Intellectual disability is a condition diagnosed before age 18 that includes below-average intellectual function and a lack of skills necessary for d...
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Delayed growth
Delayed growth
Delayed growth is poor or abnormally slow height or weight gains in a child younger than age 5. This may just be normal, and the child may outgrow i...
ImageRead Article Now Book Mark Article - Loss of hearing
- Muscle weakness of the legs and arms
Exams and Tests
Your health care provider will perform a physical exam, paying special attention to the skin and eyes. Your provider will also ask about a family history of XP.
Tests that may be done include:
-
Skin biopsy in which skin cells are studied in the lab
Skin biopsy
A skin lesion biopsy is when a small amount of skin is removed so it can be examined under a microscope. The skin is tested to look for skin conditi...
ImageRead Article Now Book Mark Article - DNA testing for the variant gene
The following tests can help diagnose the condition in a baby before birth:
- Amniocentesis
- Chorionic villus sampling
- Culture of amniotic cells
Treatment
People with XP need total protection from sunlight. Even the light coming through windows or from fluorescent bulbs can be dangerous.
Protection from sunlight
Many skin changes, such as skin cancer, wrinkles, and age spots are caused by exposure to the sun. This is because the damage caused by the sun is p...
When out in the sun, protective clothing must be worn.
To protect the skin and eyes from the sunlight:
- Use sunscreen with the highest SPF you can find.
- Wear long-sleeve shirts and long pants.
- Wear sunglasses that block UVA and UVB rays. Teach your child to always wear sunglasses when outdoors.
To prevent skin cancer, your provider may prescribe medicines, such as a retinoid cream, to apply to the skin.
If skin cancer develops, surgery or other methods will be done to remove the cancer.
Support Groups
More information and support for people with XP and their families can be found at:
- National Organization for Rare Disorders -- rarediseases.org/rare-diseases/xeroderma-pigmentosum/
- Xeroderma Pigmentosum Society -- www.xps.org
Outlook (Prognosis)
Over one half of people with this condition die of skin cancer early in adulthood.
When to Contact a Medical Professional
Contact your provider for an appointment if you or your child has symptoms of XP.
Prevention
Experts recommend genetic counseling for people with a family history of XP who wish to have children.
Reviewed By
Elika Hoss, MD, Assistant Professor of Dermatology, Mayo Clinic, Scottsdale, AZ. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
Dhossche JM, Chiu YE. Photosensitivity. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 697.
James WD. Genodermatoses and congenital anomalies. In: James WD, ed. Andrews' Diseases of the Skin: Clinical Dermatology. 14th ed. Philadelphia, PA: Elsevier; 2026:chap 22.
Patterson JW. Disorders of epidermal maturation and keratinization. In: Patterson JW, ed. Weedon's Skin Pathology. 6th ed. Philadelphia, PA: Elsevier; 2025:chap 10.
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