Betül ŞEREFLİCAN, Seval BAYRAK, Sıddıka HALICIOĞLU, Gülzade ÖZYALVAÇLI, Murat ŞEREFLİCAN, Bengü TUMAN

Gorlin-Goltz sendromu

Gorlin-Goltz sendromu oldukça nadir görülen otozomal baskın kalı-tımlı çoklu sistemik bir hastalıktır. Bazal hücreli karsinom, çene kistleri,frontal belirginleşme, vertebra anomalileri gibi iskelet anomalileri;palmoplantar çukurlanma ve falks serebri kalsifikasyonuyla belirgindir.Medulloblastom, fibrom, rabdomyom, leiomyosarkom vb. tümörlereeğilim vardır. Tanı büyük ve küçük klinik ve radyolojik ölçütleredayanmaktadır. Erken tanı ve tedavi, bu sendromun uzun dönemdesekellerini azaltmada büyük önem taşımaktadır. Bu yazıda saçlı derideçok sayıda kahverengi-siyah papül ve plaklarla kliniğimize başvuranve Gorlin-Goltz sendromu düşünülen 15 yaşında erkek çocuk hastasunuldu. Hastanın özgeçmişinde medulloblastom nedeniyle cerrahirezeksiyon yapıldığı ve sonrasında kraniyal radyoterapi aldığı, ayrıcatek taraflı retinoblastom öyküsü vardı. Olgu, Gorlin-Goltz sendromuve retinoblastom birlikteliğinin dizinde daha önce tanımlanmamasıve radyoterapi sonrası gelişebilecek bazal hücreli karsinomlara dikkatçekmek amacıyla sunuldu.

Gorlin-Goltz syndrome

Gorlin-Goltz syndrome is a rare multisystemic disease inherited in an autosomal dominant pattern. It is characterized by numerous basal cell carcinoma of the skin, jaw cysts, and skeletal anomalies such as frontal bossing, vertebral anomalies, palmoplantar pits, and falx cerebri calcification. There is a tendency to tumors including medullablastoma, fibroma, rabdomyoma, leiomyosarcoma etc.. The diagnosis is based on major and minor clinical and radiologic criteria. Early diagnosis and treatment are of utmost importance in reducing the severity of longterm sequelae of this syndrome. In this article, we present a 15-yearold boy who was admitted to our clinic with brown-black papules and plaques on his scalp and was thought to have Gorlin-Goltz syndrome. He had a history of medulloblastoma that was treated with surgical resection followed by cranial radiotherapy and unilateral retinoblastoma. We present this case, because association of Gorlin-Goltz syndrome and retinoblastoma has not been described previously in the literature and we aimed to draw attention to radiation-induced basal cell carcinomas.

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