An 8 year-old girl in a developing country with significant corneal scarring and multiple cutaneous skin lesions in sun-exposed areas. Neuro-developmental delay had been present since 3 months of age.What is the probable diagnosis which is due to defective nucleotide excision repair?
Xeroderma pigmentosum is an example of defective DNA nucleotide excision repair. There is an inability to repair DNA pyrimidine dimers caused by UV exposure. The following image shows an eight-year-old girl with Xeroderma pigmentosum. Frontal image of the face, showing large hyperkeratotic lesions with some induration suspicious of actinic keratosis and early squamous cell carcinoma. Also numerous hyper-pigmented lentigos and xerosis on the entire front of the face. Reference: Harpers illustrated biochemistry 30th edition
Werner syndrome (WS)
Xeroderma pigmentosum (XP)
Rothmund-Thomson syndrome
Bloom syndrome (BS)
Metabolism of nucleic acids