Taylor+M.

**What is it?:** Xeroderma Pigmentosum, also known as XP, is a genetic rare skin disorder. Carriers of this disorder are very sensitive to sunlight. Most are extremely prone to several types of skin cancers. The disease is normally detected when a child is between the age of 1-2, however syptoms can occur as early as up to 6 months of age. Less than 40% of carriers of this disease live past 20 years old. Most die due to a type of skin cancer. ** Mode of Inheritance :** Xeroderma Pigmentosum is an autosomal recessive genetic disorder. It is caused by chrosomal errors and damaged DNA. Excision Genes of the carriers are either lacking or very weak which causes carriers of the disorder not to be able to recover from sunburns as easily as those with strong excision genes. People with the disorder can still reproduce normally. The chance of them having a child with the disorder is rare, but still possible. Symptoms of this disorder included severe sunburn atfer only a short time of sun exposure. The sunburn normally lasts for a while and normally occurs during a child's first sun exposure. Other symptoms included development of many freckels at an early age, irregular dark spots, and excessive dryness to the skin. Carriers eyes may also be painfully sensitive to the sun, and may easily become irritated or bloodshot. Blistering or freckeling after minimum sun exposure are also symptoms. Carriers of the disorder may also experience premature aging of their skin, lips, eyes, mouthes, and tounges. The symptoms of this disease are produced mostly by the sunlight. Damaged genes of the carriers include genes XPA-XPG which can no longer help them repair from sunburns. Xeroderma Pigmentosum affects the victim physically. Most people with the disorder develop freckels very early, and tend to have very dry skin. This disorder is lifethreatening. Victims of it have increased chances of skin cancer, pre-cancerous tumors, and mouth and eye tumors. Many people with this disorder die at an early age of skin cancer. However, is a person is diagnosed early enough, doesn't have very sever symptoms, and takes all the precautions to avoid all possible sunlight, may live beyond middle age. In the United States, approximately 1 person per a 250,000 population have the disorder. Xeroderma Pigmentosum has been reported is all races, however people of Japan have the highest frequency rates. The disorder has been reported equally between males and females. This disorder is diagnosed mostly of children between the ages of 1 and 2 years old. Doctors take blood and urine samples. They also mesure their DNA repair factor. The disorder was first diagnosed in 1874 by Hebra and Kaposi. From what I could find, there aren't any well known people with the disorder, however, country singer Brad Paisley and his wife Kimberly, support a camp for children with light sensitive disorders and donated $10,000 to the camp. Xeroderma Pigmentosum can be detected before the symptoms occur. Normally, prenatal tests such as amniocentesis and/or chorionic villi sampling is done by the mother's doctor. There is a carrier state for this disorder, however no symptoms are associated with it. It would have to be detected by further testing. **Treatment:** There is no cure for this disorder, so the best thing to do is to keep the carrier our of the sunlight. When it is unavoidable, the best thing to do is to put sunscreen on all exposed areas of skin, and try to cover up with clothes, hats, and sunglasses as best as possible. Gene therapy is not available, but should soon be attempted on patients in France. Protein Therapy is available for some people with the disorder. Patients are given a lotion that contains viral proteins that speeds up the action of the protein that patients are lacking. Using this lotion increses a patients chance of their cells becoming more normal and able to repair their UV damaged DNA making their chances of sunburn and skin cancer less likely. The pros to the treatments are that if they are successful it can drastically drop a patients chance of skin cancer, or sunburns, but the treatments are not always 100% successful.
 * Clinical Description: **
 * Support Groups: **
 * 1) The XP Support Group - []
 * 2) The XP Family Support Group - []
 * 3) The Xeroderma Pigmentosum Society - [|http://www.xps.org]

media type="custom" key="3618599" **

References: ** "Xeroderma Pigmentosum Society." __Xeroderma Pigmentosum Society, Inc.__ 6 Apr. 2009. 7 Apr. 2009 . "Xeroderma Pigmentosum." __Mama'sHealth.Com__. 2008. 7 Apr. 2009 . Hafeez Diwan, A. "Xeroderma Pigmentosum." __EMedicine__. 7 Oct. 2008. 7 Apr. 2009 . "Definition of Xeroderma Pigmentosum." __MedicineNet.com__. 31 Jan. 2004. 7 Apr. 2009 []. __Xeroderma Pigmentosum__. YouTube, 2006.