Original Research Paper
Xeroderma Pigmentosa: An Extremely Rare Illness With No Cure
Madhuri, Pulkit Ramavat, Mukul Mudgal
Extreme photosensitivity, including blistering after brief exposure to sunlight, early onset of freckling and lentiginous pigmentation, and other features of poikiloderma, as well as an increased risk of skin cancer, are hallmarks of Xeroderma pigmentosum (XP), a rare disorder of defective UV-radiation-induced damage repair. This concise overview compiles the most recent findings on the genetic, molecular, and clinical aspects of XP. Diseases with an X-linked recessive pattern are those that affect the systems in charge of repairing broken DNA. Many negative health effects have been associated with exposure to UV radiation and its metabolites. Diseases and tumours of the skin, eyes, nervous system, central nervous system, and other tissues are just some examples. Complications such as skin cancer and brain damage contribute to a reduced life expectancy for many people with XP compared to the general population, but taking measures to restrict their exposure to UV radiation can postpone the onset of disease and possibly add years to their lives. It is critical to understand the biological defences against photoaging and UV-induced malignancy.
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