Xeroderma Pigmentosum Mnemonic for USMLE

Xeroderma pigmentosum is a genetic defect caused by a mutation in nucleotide excision repair, which is the DNA repair process used to remove thymine dimers caused by UV light exposure. Thymine dimers are large, bulky lesions, and their presence leads to distortions in the DNA helix. These thymine dimers then may interfere with normal replication, leading to DNA damage in xeroderma pigmentosum patients. The clinical presentation includes extreme sensitivity to sunlight, increased risk for skin cancers, and the development of corneal ulcers. Since there is no definitive treatment, patients with xeroderma pigmentosum simply have to avoid exposure to UV light.

Learn about xeroderma pigmentosum and other biochem topics with Pixorize's USMLE mnemonics. Part of our DNA repair playlist for the USMLE Step 1 exam.

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