What are the signs and symptoms of Xeroderma Pigmentosum ?
Atrophy and skin contractures are evident around the nose and mouth, a beak nose appearance appears. Often there is actinic keratosis. The face acquires an old face appearance in childhood.
Early ocular signs are photophobia and increased tears. Skin lesions that heal by leaving a scar are seen around the eye, eyelid inverting-entropion, eyelid turning out-ectropion. Dryness in the conjunctiva, telangiectasia, hyperpigmented macules, and corneal opacities may occur.
Neurological findings are in the form of mental retardation, microcephaly, cerebellar ataxia, epilepsy and sensorineural deafness.