Oculocutaneous manifestations in xeroderma pigmentosa.

摘要

Xeroderma pigmentosum (XP) is a rare genetic disease characterised by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation. The oculocutaneous features of 10 patients with XP were studied retrospectively. General features included parental consanguinity (40%), familiarity (60%), onset of symptoms in first 2 years (50%), malignant skin neoplasms (60%), and carcinoma of the tongue (20%). Among the ocular features, 50% of patients presented with photophobia. Lid freckles or atrophic skin lesions were seen in all patients. Lower lid tumours were seen in 30%, chronic conjunctival congestion in 40%, corneal opacification in 40%, squamous cell carcinoma of limbus in 20%, bilateral pterygium in 40%, and visual impairment in 50%. The clinical features (ocular and cutaneous) of the cases are discussed.