Rothmund Thomson Sendromu

Öz

Poikiloderma konjenitale olarak da bilinen Rothmund Thomson sendromu, infantil dönemde ortaya çıkan poikiloderma ile karakterize, otozomal resesif geçişli, nadir görülen bir sendromdur. Göz ve iskelet sistemi patolojilerinin de eşlik edebildiği hastalıkta mezenkimal malignite gelişme riski artmıştır. 6 yaşında kız çocuğu, yüzde ve gövdede poikiloderma (atrofi, hipopigmentasyon, hiperpigmentasyon, telenjiektazi), fotosensitivite, her iki plantar bölgede hiperkeratoz ve tırnak distrofisi ile başvurdu. Klinik olarak Rothmund Thomson sendromu tanısı konulan hastaya güneşten korunma ve topikal tedavi önerilerinde bulunuldu. Antitenin nadir görülmesi nedeniyle olgumuzu sunuyoruz.

Anahtar Kelimeler

• infant,poikiloderma konjenitale

Kaynakça

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9. • 9-Grant SG, Wenger SL, Latimer JJ, Thull D, Burke LW: Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome. Clin Genet 2000, 58:209-215
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