xeroderma pigmentosa

Question 1

Xeroderma pigmentosum gene and mechanism:

Answer 1

XPG genes: defects of nucleotide excision repair pathway

Question 2

Xeroderma pigmentosum features:

Answer 2

• 1000x increased risk of all skin cancers
• increased risk of solid and CNS tumors, though rare
• optho: conjunctivitis, ectropion, symblepharon
• nuero: developmental delays, hearing loss, ataxia, hyporeflexia