Annexure 2:
Rare Genetic Disorders
XERODERMA PIGMENTOSUM
Xeroderma pigmentosum (XP), more commonly referred as dry pigmented skin condition, is a rare hereditary disorder inherited in an autosomal recessive pattern that predominantly sensitizes the affected individual to develop skin related infections on exposure to sunlight, along with higher susceptibility to developing skin cancer. Mostly in around 60% of total cases, XP affected individuals have an exaggerated response to developing sunburns with blisters, persistent erythema, and sunlight-induced ocular abnormalities depending upon the period of exposure to sunlight. In the remaining 40% of cases, patients experience varying degrees of neurological dysfunction (acquired microcephaly, progressive ...
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