Sommario
Che malattia è la XP?
Il termine xeroderma pigmentoso (Xp) si riferisce a un gruppo di malattie genetiche ereditarie caratterizzate da un’estrema sensibilità alle radiazioni ultraviolette (luce del Sole).
Cosa vuol dire malattia rara?
Le malattie rare sono patologie che colpiscono un numero molto piccolo di persone. In tutte le specialità della medicina – neurologia, cardiologia, reumatologia, oncologia, ecc. – sono tante le malattie a bassa o bassissima prevalenza.
Lo xeroderma pigmentoso (XP) è una genodermatosi rara da elevata sensibilità alle radiazioni ultraviolette (UV), associata ad alterazioni cutanee e oculari e a carcinomi cutanei multipli.
What causes xeroderma pigmentosum?
– Sensorineural hearing loss – Intellectual disability – Seizures – Poor Coordination
What chromosome is xeroderma pigmento?
Xeroderma pigmentosum is inherited in an autosomal recessive pattern. [1] All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Recessive means that both copies of the responsible gene must be altered to have the condition.
What is xeroderma pigmentosum disease?
Xeroderma pigmentosum is a genetic disease characterized by such extraordinary sensitivity to sunlight that it results in the development of skin cancer at a very early age. It is abbreviated as XP. Children with XP disease can only play outdoors safely after nightfall. XP is due to defective repair of damage done to DNA by ultraviolet (UV) light.
Is xeroderma pigmentosum contagious?
Xeroderma pigmentosum (XP) is a rare inherited multisystem disorder characterized by a heightened sensitivity to the DNA damaging effects of ultraviolet radiation (UV). The main source of UV is the sun. The major signs and symptoms of XP can be seen in sun-exposed areas of the body.