A. Patients should avoid exposure to any source of UV light.
B. Most patients die of cancer.
C. Occurs due to abnormal Nucleotide excision repair.
D. All of the above.
Ans:D. All of the above.
The patient is probably suffering from Xeroderma Pigmentosum.
- It is a rare autosomal recessive disease characterized by photosensitivity, pigmentary changes, Skin freckling,ulcerations,premature skin ageing, neoplasia and abnormal Nucleotide excision repair.
- Carcinomas and Melanomas appear early in life and most patients die of cancer.
- The most common deficiency occurs in the excision endonuclease.
- This disease can be diagnosed by measurement of the relevant enzyme excision endonuclease in white cells of blood.
- Patients with the disease should avoid exposure to any source of UV light.