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Xeroderma Pigmentosa

Last updated March 18, 2018

Approved by: Maulik P. Purohit MD, MPH


An image showing a child suffering from a rare genetic skin condition called Xeroderma Pigmentosum.

What are the other Names for this Condition? (Also known as/Synonyms)

  • Children of the Night
  • XP (Xeroderma Pigmentosa) 

What is Xeroderma Pigmentosa? (Definition/Background Information)

  • Xeroderma Pigmentosa (XP) is a rare, inherited, genetic condition characterized by extreme sensitivity to the ultra-violet rays from the sunlight. The most prominent symptoms include severe sunburn even after little sun exposure, premature skin aging, and development of skin cancers
  • Skin cancers can occur in child even before the age of 5 years. A complete protection from sunlight is the most effective measure to prevent progression of the condition
  • Nevertheless, the prognosis of Xeroderma Pigmentosa is poor. Many children die from skin cancers very early in their childhood

Who gets Xeroderma Pigmentosa? (Age and Sex Distribution)

  • Xeroderma Pigmentosa is an inherited condition that is present at the time of birth. The symptoms typically occur after 6 months of age, during infancy or childhood
  • There is no gender predilection and both male and female babies are affected
  • It is a rare condition that has been demonstrated to affect 1 in 1 million people in the United States and Europe
  • The condition is also commonly observed (higher incidence) among the Japanese, North African, and Middle Eastern community

What are the Risk Factors for Xeroderma Pigmentosa? (Predisposing Factors)

The only risk factor associated with Xeroderma Pigmentosa is a positive family history of the condition. 

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider. 

What are the Causes of Xeroderma Pigmentosa? (Etiology)

  • Xeroderma Pigmentosa is an infrequent genetic condition that is inherited in an autosomal recessive pattern
  • XP is caused by mutations in the genes that are needed to repair the DNA. Studies have indicated that there are many genes that can be damaged by mutations resulting in the condition
  • Sunlight only worsens the situation and causes the symptoms to become apparent, as in many cases having the defect are not obvious, until it gets aggravated

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children, born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected). 

What are the Signs and Symptoms of Xeroderma Pigmentosa?

The signs and symptoms associated with Xeroderma Pigmentosa include:

  • Severe sunburn and blistering after slight sun exposure (few minutes)
  • Scaly skin with freckles
  • Irregular patches of lightened or darkened skin
  • Spider-like vessels under the skin
  • Thinning of the skin
  • Eye-related signs and symptoms such as redness, irritation, and extreme sensitivity to sunlight
  • Neurological conditions such as developmental delays, poor coordination, deafness, and short stature

How is Xeroderma Pigmentosa Diagnosed?

The diagnosis of Xeroderma Pigmentosa involves the following tests and procedures:

  • Complete evaluation of medical history and a thorough physical exam
  • The physical examination may involve examining the eye, evaluating the cornea and eyelids
  • Amniocentesis, chorionic villus sampling, and culture of amniotic cells may be used to diagnose the condition prior to birth
    • Amniocentesis is a test conducted to diagnose fetal abnormalities by removing a small amount of amniotic fluid that can help assess fetal tissues too
    • Chorionic villus sampling is a procedure performed to identify any genetic abnormality in the fetus        
  • Tests used to diagnose Xeroderma Pigmentosa after birth may include:
    • Skin biopsy: A small sample of skin tissue is taken and examined under a microscope by the pathologist
    • Culture of skin fibroblasts, which is a specialized test to diagnose genetic conditions 

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis. 

What are the possible Complications of Xeroderma Pigmentosa?

The possible complications associated with Xeroderma Pigmentosa include:

  • Skin disfigurement causing emotional and self-esteem issues
  • Skin cancers that affect the face and scalp
  • Many individuals may suffer multiple skin cancer incidences too

How is Xeroderma Pigmentosa Treated?

Xeroderma Pigmentosa is a skin-related genetic disorder that needs complete protection from sunlight. The treatment measures for XP may include:

  • Avoidance of direct sun exposure, even in small quantities
  • Sunlight that enters through the windows is also harmful; in fact some children are even sensitive to fluorescent bulbs
  • It is suggested that these individuals wear suitable protective clothing
  • It is recommended to use a high protection sunscreen, such as SPF 70 or greater, and also use protective eye glasses to avoid contact with the sun
  • In many cases, the primary care physician may prescribe medication to avoid progression of the condition to skin cancer

How can Xeroderma Pigmentosa be Prevented?

  • Currently there are no specific methods or guidelines to prevent Xeroderma Pigmentosa, since it is a  genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for  treatment and prevention of inherited and acquired genetic disorders
  • Even though XP cannot be prevented, the aggravation of symptoms can be avoided by strictly limiting or even avoiding sun exposure

What is the Prognosis of Xeroderma Pigmentosa? (Outcomes/Resolutions)

  • Xeroderma Pigmentosa is an inherited genetic disorder with a poor prognosis. Many children die very early during their childhood from skin cancers (by or after age 10 years)
  • Neurological complications can occur in about 30% of the individuals. These are progressive in nature and get worse with time

Additional and Relevant Useful Information for Xeroderma Pigmentosa:

It is very important for individuals with Xeroderma Pigmentosa to regularly follow up with their physician to prevent progression of the condition to skin cancer.

What are some Useful Resources for Additional Information?

References and Information Sources used for the Article:

Helpful Peer-Reviewed Medical Articles:

Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Sept. 16, 2015
Last updated: March 18, 2018