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Pathology JIPMER 2017 fd59e56e

All of the following are true about Xeroderma pigmentosum except:

A
Skin manifestations appear within first 2 years of life
B
Increased risk of non melanotic skin cancers
C
Nucleotide excision repair defect
D
Autosomal dominant inheritance
High-Yield Explanation
Xeroderma Pigmentosum At increased risk for the development of cancers of the skin paicularly following exposure to the UV light contained in sun rays. UV radiation causes cross-linking of pyrimidine residues, preventing normal DNA replication. Such DNA damage is repaired by the nucleotide excision repair system. Increased risk of both melanocytic and non-melanocytic cancer. Eg : Xeroderma Pigmentosum Big FAX (Inherited disorder of DNA repair) Big: Bloom syndrome F: Fanconi anemia A: Ataxia telangiectasia X: Xeroderma pigmentosum

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