What is the history of xeroderma pigmentosum?
What is the history of xeroderma pigmentosum?
Xeroderma pigmentosum (XP) was first described in 1874 by Hebra and Kaposi. In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin. Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner.
How was xeroderma pigmentosum discovered?
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disorder of DNA repair characterized by sun sensitivity and ultraviolet (UV) induced skin and mucous membrane cancers. Described in 1874 by Moriz Kaposi in Vienna, nearly 100 years later James Cleaver in San Francisco reported defective DNA repair in XP cells.
What is xeroderma pigmentosum caused by?
Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. DNA can be damaged by UV rays from the sun and by toxic chemicals such as those found in cigarette smoke. Normal cells are usually able to fix DNA damage before it causes problems.
What type of mutation is xeroderma pigmentosum?
Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis with a markedly elevated risk of developing sunlight-induced cancers of the skin and eyes (Kraemer et al., 2007). XP is caused by mutations in DNA repair genes that protect cells from UV-induced DNA damage.
What are the symptoms of xeroderma pigmentosum?
Symptoms
- Sunburn that does not heal after just a little bit of sun exposure.
- Blistering after just a little bit of sun exposure.
- 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.
- Oozing raw skin surface.
How is xeroderma pigmentosum treated?
There is no cure for xeroderma pigmentosum, so treatment focuses on any problems that are present and preventing future problems from developing. Any cancers or suspicious lesions should be treated or removed by a skin specialist (dermatologist).
Who discovered xeroderma?
Most forms of the human hereditary disease xeroderma pigmentosum (XP) are due to a defect in nucleotide excision repair of DNA damage in skin cells associated with exposure to sunlight. This discovery by James Cleaver had an important impact on our understanding of nucleotide excision repair in mammals.
Why is xeroderma pigmentosum more common in Japan?
XP patients have sun sensitivity, a 10,000-fold increased risk of skin cancer and defective DNA repair [4]. The frequency of XP in Japan is about 1:22,000 [5;6], which is much more common than in the US and Europe (about 1 per million) [2;6]. There are 8 XP DNA repair genes (XPA to XPG and XP variant).
How do you test for xeroderma pigmentosum?
The xeroderma pigmentosum complementation groups can be determined using cell-fusion techniques followed by assessment of DNA repair or by gene sequencing. Prenatal diagnosis is possible by amniocentesis or chorionic villi sampling. Unscheduled DNA synthesis is the classic method for diagnosis.
How do you treat xeroderma pigmentosum?
What are symptoms of xeroderma pigmentosum?
Is xeroderma pigmentosum recessive or dominant?
XP is an autosomal recessive genetic condition caused by alterations (mutations) in nine different genes. Eight of the genes make up the nucleotide excision repair pathway (NER) that identities and repairs UV induced DNA damage. The ninth gene acts to bypass unrepaired damage.
