Rothmund Thomson Sendromu

Year 2017, Volume: 2 Issue: 2, 48 - 53, 23.08.2017

ALİ İHSAN Güleç , ÖMER FARUK Elmas , HANDAN Bilen , MAHMUT SAMİ Metin

Abstract

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.

Keywords

infant, poikiloderma konjenitale

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