Gorlin-Goltz sendromu
Yükleniyor...
Dosyalar
Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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. tümörlere eğilim vardır. Tanı büyük ve küçük klinik ve radyolojik ölçütlere dayanmaktadır. Erken tanı ve tedavi, bu sendromun uzun dönemde sekellerini azaltmada büyük önem taşımaktadır. Bu yazıda saçlı deride çok sayıda kahverengi-siyah papül ve plaklarla kliniğimize başvuran ve Gorlin-Goltz sendromu düşünülen 15 yaşında erkek çocuk hasta sunuldu. Hastanın özgeçmişinde medulloblastom nedeniyle cerrahi rezeksiyon yapıldığı ve sonrasında kraniyal radyoterapi aldığı, ayrıca tek taraflı retinoblastom öyküsü vardı. Olgu, Gorlin-Goltz sendromu ve retinoblastom birlikteliğinin dizinde daha önce tanımlanmaması ve radyoterapi sonrası gelişebilecek bazal hücreli karsinomlara dikkat çekmek amacıyla sunuldu.
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.
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.
Açıklama
Anahtar Kelimeler
Bazal Hücreli Karsinom, Gorlin-Goltz Sendromu, Medulloblastom, Retinoblastom, Basal Cell Carcinoma, Gorlin-Goltz Syndrome, Medulloblastoma, Retinoblastoma
Kaynak
Türk Pediatri Arşivi
Turkish Archives of Pediatrics
Turkish Archives of Pediatrics
WoS Q Değeri
Scopus Q Değeri
Cilt
52
Sayı
3
