All of the following are true about Xeroderma pigmentosum except:
Skin manifestations appear within first 2 years of life
Increased risk of non melanotic skin cancers
Nucleotide excision repair defect
Autosomal dominant inheritance
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
JIPMER 2017