Xeroderma Pigmentosum: Case Series
Journal Title: Scholars Journal of Applied Medical Sciences - Year 2018, Vol 6, Issue 6
Abstract
Abstract: Xeroderma Pigmentosum (XP) is a rare autosomal recessive disease. It is caused due to defect in deoxyribonucleic acid (DNA) repair. Eye involvement is seen in 80% of cases. XP patients have intolerance for sunlight which damages the skin as well as the eyes of patients. In extreme cases all exposure to bright sunlight must be avoided. XP patients are also called as Children of the Night. XP patients have freckle like skin pigmentation, multiple cutaneous and ocular malignancies. In late stages neurodegeneration may also occur. XP patients may present with eyelid atrophy or malignancies, corneal dryness, exposure keratopathy and conjunctival tumours. Among the ophthalmic manifestations lid freckles is the most common. We report a case series with almost all typical features in the skin and eyes.
Authors and Affiliations
Dr. Bhavesh Makkar, Dr. Deepak Mishra, Dr. Prashant Bhushan
Keywords
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