Sabbia T, Bovone S, Camera A, Gambini C, Balbi P
Servizio di Odontostomatologia, Ospedali Galliera di Genova, Università degli Studi di Genova.
Minerva Stomatol. 1994 Jul-Aug;43(7-8):359-63.
A patient with Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome) is described. This disease has an autosomal dominant inheritance pattern with complete penetrance and extremely variable expressivity. The case report seems to represent a new mutation. Gorlin-Goltz syndrome is characterized by a lot of symptoms primarily involving the skin, central nervous system, and skeletal system. In 90% of the patients, nevoid basal cell carcinoma syndrome is associated with recurring odontogenic keratocysts. Also our patient showed recurrent jaw and maxillary cysts, for this reasons he has been followed for 10 years to the Oral Pathology Service of Galliera Hospital.
本文描述了一名患有戈林-戈尔茨综合征（痣样基底细胞癌综合征）的患者。该疾病具有常染色体显性遗传模式，完全显性且表达率极具变异性。该病例报告似乎代表了一种新的突变。戈林-戈尔茨综合征的特征是出现许多主要累及皮肤、中枢神经系统和骨骼系统的症状。在90%的患者中，痣样基底细胞癌综合征与复发性牙源性角化囊肿有关。我们的患者也出现了复发性颌骨和上颌囊肿，因此他在加利埃拉医院口腔病理科接受了10年的随访。
