Chromosomal study of Bloom syndrome: Report of a case

Abstract

Bloom syndrome is a rare autosomal recessive genetic disorder, which is characterized by telangiectasia and erythema in the butterfly area of the face, dwarfism and photosensitivity. The case presented herein is a 22-year-old man who referred with facial erythema and telangiectasia (Resembling lupus erythematosus). The skin lesions were exacerbating during summer. Other clinical findings were proportionally short stature and bird-like facies, spots on the trunk. Chromosomal study was done which showed chromosome instabilities including gaps breaks, fragment and rearrangements in 90% of metaphases studies. Regarding to clinical findings and results of the chromosomal study, diagnosis of Bloom syndrome was established.