Collagen Vascular Diseases
Cells cultured from patients with this disorder exhibit low activity for the nucleotide excision repair process. This autosomal recessive genetic disease includes marked sensitivity to sunlight (Ultra voilet light) with subsequent formation of multiple skin cancers and premature death, the disorder is - (AIIMS Nov 2012)
|A||Acute intermittent porphyria|
|D|| Ataxia – Telangiectasa|
a. This patient has -
i. Decreased activity for the nucleotide excision repair process.
ii. Increased sensitivity to sunlight (photosensitivity)
iii. Increased susceptibility to skin cancer
iv. Premature death
b. All suggests the diagnosis of xeroderma pigmentosa.