Xeroderma pigmentosum

General: Rare autosomal recessive disorder characterized by extrem 242i84c e cutaneous photosensitivity; both sexes affected; onset in infancy or early childhood.

Ocular: Conjunctivitis; symblepharon; keratitis; corneal ulcer; blepharitis; uveitis; malignancies of conjunctiva, cornea, eyelids, and iris; ectropion; keratoconus; lid freckles; chronic conjunctival congestion; corneal opacification; bilateral pterygium; epibulbar and palpebral squamous cell corneal carcinoma.

Clinical: Neurologic abnormalities and cutaneous malignancies of ectodermal origin; speech disorders; spastic paralysis; convulsions; mental deficiency; gonadal hypoplasia; stunted growth; carcinoma of tongue.

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Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

Goyal JL, et al. Oculocutaneous manifestations in xeroderma pigmentosa. Br J Ophthalmol 1994; 78:295-297.

Newsome DA, et al. Repair of DNA in xeroderma pigmentosum conjunctiva. Arch Ophthalmol 1975; 93:660-662.

Sevel D. Xeroderma pigmentosum with ocular complications. Br J Ophthalmol

Vivian AJ, et al. Ocular melanomas in xeroderma pigmentosum. Br J Ophthalmol 1993; 77:597-598.