Front | What is xeroderma pigmentosum? |
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Back | ● Autosomal recessive disorder characterized by impaired ability to repair sunlight-induced damage to DNA ● Patients’ skin can have hyperpigmentation, atrophy, actinic keratosis, and telangiectasias ● Cutaneous neoplasms are common later in life ● Ocular changes include keratoconjunctivitis sicca, blepharospasm, conjunctival telangiectasias, hyperpigmentation, symblepharon, eyelid atrophy, scarring, trichiasis, ocular neoplasms (in 11% of patients and more common at the limbus |
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