Extreme sunburn sensitivity. Hypersensitivity of the skin to ultraviolet light-induced freckle-like pigmentation changes. Unlike in other XP groups, skin cancer is relatively uncommon in XPFpatients. Neurological degeneration occurs, often with late onset, resulting in sensorineural deafness, ataxia, areflexia, microcephaly and intellectual deficiency.
Mutations in XPFcan also result in other clinical features. There are a few reports of XPFmutations resulting in Fanconi anaemia and others causing adult-onset progressive neurological deterioration with ataxia, dementia, and frequently chorea, neuropathy, and spasticity.
XPF