BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuXeroderma pigmentosumXeroderma 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 an abnormal 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 abnormal gene is rare, so the chances of both parents having the gene are very rare. 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 disorderAutosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...ImageRead Article Now Book Mark Article 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 BlisteringA 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 ScalingScales 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) PhotophobiaPhotophobia is eye discomfort in bright light.ImageRead Article Now Book Mark Article Skin cancer at a very young age (including melanoma, basal cell carcinoma, squamous cell carcinoma) MelanomaMelanoma 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 Article Basal cell carcinomaBasal 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 Article Squamous cell carcinomaSquamous 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...ImageRead Article Now Book Mark Article Eye symptoms include:Dry eye Clouding of the cornea Clouding of the corneaA cloudy cornea is a loss of transparency of the cornea.ImageRead Article Now Book Mark Article Ulcers of the cornea Ulcers of the corneaThe 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...ImageRead Article Now Book Mark Article Swelling or inflammation of the eyelids Swelling or inflammation of the eyelidsBlepharitis 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 scleraNervous system (neurologic) symptoms, which develop in some children, include:Intellectual disability Intellectual disabilityIntellectual disability is a condition diagnosed before age 18 that includes below-average intellectual function and a lack of skills necessary for d...Read Article Now Book Mark Article Delayed growth Delayed growthDelayed 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 The health care provider will perform a physical exam, paying special attention to the skin and eyes. The 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 laboratory Skin biopsyA 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 problem gene The following tests can help diagnose the condition in a baby before birth:Amniocentesis AmniocentesisAmniocentesis is a test that can be done during pregnancy to look for certain problems in the developing baby. These problems include:Birth defectsG...ImageRead Article Now Book Mark Article Chorionic villus sampling Chorionic villus samplingChorionic villus sampling (CVS) is a test some pregnant women have to screen their baby for genetic problems.ImageRead Article Now Book Mark Article 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 sunlightMany 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...ImageRead Article Now Book Mark Article 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.Open ReferencesReferencesBender NR, Chiu YE. Photosensitivity. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 675.Patterson JW. Disorders of epidermal maturation and keratinization. In: Patterson JW, ed. Weedon's Skin Pathology. 5th ed. Philadelphia, PA: Elsevier; 2021:chap 10.AllVideoImagesTogChromosomes and DNA - illustration Humans typically have 23 pairs of chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the body's genes.Chromosomes and DNAillustrationChromosomes and DNA - illustration Humans typically have 23 pairs of chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the body's genes.Chromosomes and DNAillustrationRelated Information Autosomal recessive(Special Topic)Telangiectasia(Symptoms)Squamous cell skin cancer(Condition)Metastasis(Special Topic)Melanoma(Condition)Rashes(Symptoms)Melanoma and other skin cancers - InDepth(In-Depth) Review Date: 5/31/2023 Reviewed By: Ramin Fathi, MD, FAAD, Director, Phoenix Surgical Dermatology Group, Phoenix, AZ. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited. © 1997- All rights reserved. A.D.A.M. content is best viewed in IE9 or above, Firefox and Google Chrome browser.Content is best viewed in IE9 or above, Firefox and Google Chrome browser.
Xeroderma pigmentosumXeroderma 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 an abnormal 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 abnormal gene is rare, so the chances of both parents having the gene are very rare. 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 disorderAutosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...ImageRead Article Now Book Mark Article 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 BlisteringA 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 ScalingScales 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) PhotophobiaPhotophobia is eye discomfort in bright light.ImageRead Article Now Book Mark Article Skin cancer at a very young age (including melanoma, basal cell carcinoma, squamous cell carcinoma) MelanomaMelanoma 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 Article Basal cell carcinomaBasal 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 Article Squamous cell carcinomaSquamous 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...ImageRead Article Now Book Mark Article Eye symptoms include:Dry eye Clouding of the cornea Clouding of the corneaA cloudy cornea is a loss of transparency of the cornea.ImageRead Article Now Book Mark Article Ulcers of the cornea Ulcers of the corneaThe 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...ImageRead Article Now Book Mark Article Swelling or inflammation of the eyelids Swelling or inflammation of the eyelidsBlepharitis 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 scleraNervous system (neurologic) symptoms, which develop in some children, include:Intellectual disability Intellectual disabilityIntellectual disability is a condition diagnosed before age 18 that includes below-average intellectual function and a lack of skills necessary for d...Read Article Now Book Mark Article Delayed growth Delayed growthDelayed 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 The health care provider will perform a physical exam, paying special attention to the skin and eyes. The 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 laboratory Skin biopsyA 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 problem gene The following tests can help diagnose the condition in a baby before birth:Amniocentesis AmniocentesisAmniocentesis is a test that can be done during pregnancy to look for certain problems in the developing baby. These problems include:Birth defectsG...ImageRead Article Now Book Mark Article Chorionic villus sampling Chorionic villus samplingChorionic villus sampling (CVS) is a test some pregnant women have to screen their baby for genetic problems.ImageRead Article Now Book Mark Article 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 sunlightMany 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...ImageRead Article Now Book Mark Article 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.Open ReferencesReferencesBender NR, Chiu YE. Photosensitivity. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 675.Patterson JW. Disorders of epidermal maturation and keratinization. In: Patterson JW, ed. Weedon's Skin Pathology. 5th ed. Philadelphia, PA: Elsevier; 2021:chap 10.