Xeroderma Pigmentosum: Diagnoses, Cause, Risk, Screening

Introduction

Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet (UV) light is deficient. Individuals with the disease are often called Children of the Night. Xeroderma pigmentosum, or 'XP,' is a form of a hereditary condition characterized by extreme sensitivity to the sun, leading to a high risk of skin cancer. Eye issues are also common. Neurologic problems such as progressive hearing loss, learning disabilities, loss of some reflexes, neuromuscular degeneration, and, on occasion, tumors in the person's central nervous system, occur in some people with XP.

The U.S. Social Security Administration (SSA) has included Xeroderma Pigmentosum as a Compassionate Allowance to expedite a disability claim.

Main Digest

People with XP are susceptible to ultraviolet radiation, including UVA and UVB. Exposure to even a tiny amount of UV radiation leads to severe burns and blistering, starting at a very young age. The sensitivity to UV radiation results in freckling and areas of skin with lighter pigmentation. Affected people may also have dehydrated skin. There is a high risk of squamous cell and basal cell skin cancers, as well as melanoma.

People with XP also experience eye issues, particularly with their eyelids. As with their skin, the person's eyes are susceptible to light, which gives them a somewhat higher risk of eye cancer. Cancers of the mouth, lips, and tip of the person's tongue have also been reported. People with XP may have neurological complications, including mental disabilities, developmental disabilities, and high-frequency hearing loss leading to deafness. Fewer than 40% of individuals with the disease survive beyond 20. Some XP victims with less severe cases do manage to live well into their 40s.

Symptoms Can Include:

• Dry skin
• Scaly skin
• Spider Veins
• Corneal ulcerations
• Irregular dark spots on the skin
• Limited growth of hair on chest and legs
• Development of many freckles at an early age
• Blistering or freckling on minimum sun exposure
• Rough-surfaced growths (solar keratoses), and skin cancers
• Eyes that are painfully sensitive to the sun and may easily become irritated, bloodshot, and clouded
• Severe sunburn when exposed to only small amounts of sunlight. These often occur during a child's first exposure to sunlight.

Causes of Xeroderma Pigmentosum (XP)

XP is a form of a genetic condition. This means the risk of XP can be passed from generation to generation in a person's family. Mutations in at least eight different genes are known to have a role in XP. Research continues where this condition is concerned.

Usually, every cell has two copies of each gene; one inherited from the person's mother and one from their father. XP follows an autosomal recessive inheritance pattern in which a mutation has to be present in both copies of the gene for the person to be affected. This means that both parents must pass on a gene mutation for a child to be affected. A person with only one copy of the gene mutation is called a 'carrier.' When both parents are carriers of a recessive mutation in the same gene, there is a 25% chance their child will inherit two mutations and therefore be affected by XP.

Options are for couples interested in having a child when they know that one carries a gene mutation that increases the risk of this hereditary cancer syndrome. Pre-implantation genetic diagnosis (PGD) is a medical procedure performed in conjunction with in-vitro fertilization (IVF). It permits people who carry a specific known genetic mutation to have children who do not carry the mutation. A woman's eggs are removed and then fertilized in a laboratory.

When the embryos reach a certain size, one cell is removed and is tested for the hereditary condition. The parents may then transfer embryos that do not have the mutation. PGD has been used for over a decade and has recently been used for several hereditary cancer predisposition syndromes. The procedure is complex, with physical, financial, and emotional factors for couples to consider before beginning. An assisted reproduction specialist at a fertility clinic can provide more information.

Xeroderma pigmentosum (XP) is considered to be a rare genetic disorder. It is estimated that one in one million people in America have XP. It seems more common in North Africa, Japan, and the Middle East.

Diagnosing Xeroderma Pigmentosa (XP)

XP is suspected when a person presents with signs of extreme sensitivity to the sun. Signs of sun sensitivity include severe burning and blistering when the affected person is exposed to even a tiny amount of sunlight or fluorescent lighting. Signs like these may be present in infancy. Young children might also be suspected of having XP if they have large freckles on their faces. The characteristic neurological and eye issues may also increase a doctor's suspicion that someone has XP. The clinical signs of XP vary widely depending upon the type of mutations involved and the amount of exposure to the sun the person has had.

Genetic testing for mutations in the genes associated with XP is available, largely as a result of research studies. Because at least eight genes are associated with XP, laboratory screening tests are recommended to help determine which genes are likely to be causing XP in a family.

Cancer Risks Associated with Xeroderma Pigmentosum

People with xeroderma pigmentosum experience an almost 100% risk of developing multiple skin cancers if their environment is not carefully controlled.

The first diagnosis of skin cancer usually happens in a person's childhood.

There might be an increased risk of cancer developing in the person's eyes and around their mouth area.

Screening Options for Xeroderma Pigmentosum (XP)

Currently suggested screenings for people who are suspected or known to have XP include some different things. These screenings include the following:

• Routine neurological evaluations
• Regular eye exams by an ophthalmologist
• A careful skin examination by a doctor every 3-6 months
• Frequent skin examination by a family member who is familiar with the features of XP-associated skin cancer

Due to the great risk of multiple skin cancers, people with XP need to avoid being in unprotected sunlight. They need to cover their skin entirely and wear UV-absorbing sunglasses outside. People with XP are also sensitive to UVC rays from artificial light sources. Halogen bulbs and some fluorescent bulbs emit sufficient IV to burn some people with XP, so UV protection indoors might also be required. Screening recommendations may change over time as new technologies are developed, and more is learned about xeroderma pigmentosum. It is important to contact your doctor concerning appropriate screening tests.

Author Credentials:

Thomas C. Weiss is a researcher and editor for Disabled World. Thomas attended college and university courses earning a Masters, Bachelors and two Associate degrees, as well as pursing Disability Studies. As a Nursing Assistant Thomas has assisted people from a variety of racial, religious, gender, class, and age groups by providing care for people with all forms of disabilities from Multiple Sclerosis to Parkinson's; para and quadriplegia to Spina Bifida. Explore Thomas' complete biography for comprehensive insights into his background, expertise, and accomplishments.

Related Publications▶ Share This Page

Page Information, Citing and Disclaimer

Disabled World is a comprehensive online resource that provides information and news related to disabilities, assistive technologies, and accessibility issues. Founded in 2004 our website covers a wide range of topics, including disability rights, healthcare, education, employment, and independent living, with the goal of supporting the disability community and their families.

Cite This Page (APA): Weiss, T. C. (2015, August 19 - Last revised: 2023, February 1). Xeroderma Pigmentosum: Diagnoses, Cause, Risk, Screening. Disabled World. Retrieved September 10, 2024 from www.disabled-world.com/health/dermatology/skin/xeroderma.php

Permalink: <a href="https://www.disabled-world.com/health/dermatology/skin/xeroderma.php">Xeroderma Pigmentosum: Diagnoses, Cause, Risk, Screening</a>: Information regarding Xeroderma pigmentosum, a condition characterized by extreme sensitivity to the sun, leading to a high risk of skin cancer.

Disabled World provides general information only. Materials presented are never meant to substitute for qualified medical care. Any 3rd party offering or advertising does not constitute an endorsement.