guyabano
IB Expert
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Hello,
imagine, you are a normal developed child, physically and mentally complete. The only difference is, you can only go out when the sun is gone. Translated from German, these children are called 'Moonshine Children'. These Kids have a genetical disorder in which the body's normal ability to repair damage caused by ultraviolet (UV) light is deficient. This leads to multiple basaliomas and other skin malignancies at a young age. In severe cases, it is necessary to avoid sunlight completely. And this genetical disorder is called 'Xeroderma pigmentosum'.
DNA repair is predominantly used by skin cells to repair sun damage. When DNA is damaged and left unrepaired, mutations in the genetic code are replicated after cell division. As a result, newly formed cells are mutated at creation and do not function as they should. The damage that is left unrepaired in XP cells is irreversible. Some of these mutations occur in parts of the gene that are responsible for regulating cell growth; the p53 gene for example keeps cells from becoming cancerous.
What is the treatment for XP ?
The main goal of treatment is protection from UV exposure and thus prevention of the damaging effects it can have on the skin. There is currently no cure for XP.What is the prognosis?Many patients with xeroderma pigmentosum die at an early age from skin cancers.However, if a person is diagnosed early, does not have severe neurological symptoms or has a mild variant, and takes all the precautionary measures to avoid exposure to UV light, they may survive beyond middle age. Patients with xeroderma pigmentosum and their families will face many challenges in daily living. Constant educating and reminding of the need to protect oneself from sunlight is paramount to the management of xeroderma pigmentosum.
imagine, you are a normal developed child, physically and mentally complete. The only difference is, you can only go out when the sun is gone. Translated from German, these children are called 'Moonshine Children'. These Kids have a genetical disorder in which the body's normal ability to repair damage caused by ultraviolet (UV) light is deficient. This leads to multiple basaliomas and other skin malignancies at a young age. In severe cases, it is necessary to avoid sunlight completely. And this genetical disorder is called 'Xeroderma pigmentosum'.
DNA repair is predominantly used by skin cells to repair sun damage. When DNA is damaged and left unrepaired, mutations in the genetic code are replicated after cell division. As a result, newly formed cells are mutated at creation and do not function as they should. The damage that is left unrepaired in XP cells is irreversible. Some of these mutations occur in parts of the gene that are responsible for regulating cell growth; the p53 gene for example keeps cells from becoming cancerous.
What is the treatment for XP ?
The main goal of treatment is protection from UV exposure and thus prevention of the damaging effects it can have on the skin. There is currently no cure for XP.What is the prognosis?Many patients with xeroderma pigmentosum die at an early age from skin cancers.However, if a person is diagnosed early, does not have severe neurological symptoms or has a mild variant, and takes all the precautionary measures to avoid exposure to UV light, they may survive beyond middle age. Patients with xeroderma pigmentosum and their families will face many challenges in daily living. Constant educating and reminding of the need to protect oneself from sunlight is paramount to the management of xeroderma pigmentosum.