TY - JOUR ID - 98473 TI - Chromosomal study of Bloom syndrome: Report of a case JO - Iranian Journal of Dermatology JA - IJD LA - en SN - AU - Mortazavi, H AU - Nazemi, MJ AU - Zarinpour, N AD - Y1 - 2003 PY - 2003 VL - 6 IS - 2 SP - 53 EP - 57 KW - Bloom syndrome KW - Photosensitivity KW - Autosomal recessive KW - Telangiectasia DO - N2 - 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. UR - https://www.iranjd.ir/article_98473.html L1 - https://www.iranjd.ir/article_98473_77f06782ad2720f945226f9aee2280ee.pdf ER -