A case with Bloom Syndrome

BS is a rare, autosomal recessive disorder characterized by telangiectasias, photosensitivity, growth deficiency of prenatal onset, immunodeficiency, increased susceptibility to malignancies and diabetes mellitus. There is an increased risk of developing neoplasia at early ages. Chromosomal fractures and an increase in sister chromatid exchanges are observed in BS that presents prominent genetic instability. A sixteen year old boy applied to our clinic with complaint of erythema on his face having existed since infancy. In physical examination of the patient in whom growth retardancy has been determined, a narrow, long face, prognatism, an erythematous telangiectatic blanchable patch involving malar areas, nose, forehead, and temples have been established. The patient whose sister chromatid exchange number was determined as 107/cell in cytogenetic analyse, was cited as BS together with his phenotypic findings. The patient has been taken into follow-up in terms of cancer risk and the family was genetically informed.

Bloom Sendromlu Bir Olgu Sunumu

Bloom sendromu (BS) telenjiyektaziler, fotosensitivite, büyüme geriliði, immünyetmezlik, maliniteler ve diabete yatkýnlýkla karakterize otozomal resesif geçiþli nadir görülen bir sendromdur. Genç yaþlarda neoplazi geliþimi açýsýndan yüksek risk bulunmaktadýr. Belirgin genetik kararsýzlýk gösteren BS’da mitotik hücrelerde kromozom kýrýklarý ve kardeþ kromatid deðiþiminde artma gözlenir. On altý yaþýnda erkek hasta yüzünde bebeklik döneminden beri mevcut olan kýzarýklýk yakýnmasý ile baþvurdu. Geliþme geriliði saptanan hastanýn fizik muayenesinde ince uzun yüz, prognatizm, yüzde her iki malar bölge, burun dorsali, alýn ve þakaklarý kaplayan retiküler tarzda, basmakla yer yer solan ve telenjiyektaziler içeren eritemli yama mevcuttu. Sitogenetik analizde kardeþ kromatid kýrýðý sayýsý ortalama 107/hücre olarak saptanan hastaya fenotipik bulgularýyla birlikte BS tanýsý konuldu. Aileye genetik danýþma verilerek olgu kanser geliþme riski açýsýndan takibe alýndý.