[Six cases of basal cell nevus carcinoma in three families].
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.
Kovács
A
A
Komárom-Esztergom Megyei Onkormányzat Kórháza és Rendelöintézete, Tatabánya, Szent Borbála Kórház, Börgyógyászati Osztály és Bör és Nemibeteggondozó Intézet.
Czeizel
E
E
D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000151:congenital / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D002274:Carcinogens, Environmental; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003131:Combined Modality Therapy; D005260:Female; D005799:Genes, Dominant; D005817:Genetic Counseling; D006801:Humans; D006814:Hungary; D008297:Male; D008875:Middle Aged; D009153:Mutagens; D009154:Mutation; D012878:Skin Neoplasms / Q000151:congenital / Q000235:genetics* / Q000473:pathology / Q000628:therapy
D002274:Carcinogens, Environmental; D009153:Mutagens
Basalsejtes naevus carcinoma betegség hat esete három családban.