Kovács A, Czeizel E
Komárom-Esztergom Megyei Onkormányzat Kórháza és Rendelöintézete, Tatabánya, Szent Borbála Kórház, Börgyógyászati Osztály és Bör és Nemibeteggondozó Intézet.
Orv Hetil. 1996 Mar 10;137(10):513-22.
Six cases of three families had basal cell nevus cacinoma syndrome of autosomal dominant inheritance. Five characteristics of this genetic disease are stressed: (1) 40% of cases had sporadic occurrence due to de novo mutations; (2) there are three phases in the manifestation of the disease: congenital abnormalities diagnosed after birth; nevoid phase during childhood with increase at adolescence; oncogen phase after the second decade; (3) symptoms have a variability and age-dependency, (4) this mutant gene can cause both congenital abnormalities and tumours; (5) these patients are very sensitive for environmental mutagens thus it is necessary to limit or to exclude UV and X-rays, cytostatic and immunosuppressive drug treatments.
三个家族的六例患者患有常染色体显性遗传的基底细胞痣癌综合征。强调了这种遗传性疾病的五个特征：（1）40%的病例由于新发突变而散发发生；（2）该疾病的表现有三个阶段：出生后诊断出的先天性异常；儿童期的痣样阶段，在青春期增多；二十岁之后的肿瘤发生阶段；（3）症状具有变异性和年龄依赖性；（4）这种突变基因可导致先天性异常和肿瘤；（5）这些患者对环境诱变剂非常敏感，因此有必要限制或排除紫外线和X射线、细胞抑制剂和免疫抑制药物治疗。
