Basal cell nevus syndrome. Presentation of six cases and literature review.
Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is an autosomal dominant inherited disorder which is characterised by the presence of multiple maxillary keratocysts and facial basal cell carcinomas, along with other less frequent clinical characteristics such us musculo-skeletal disturbances (costal and vertebrae malformations), characteristic facies, neurological (calcification of the cerebral falx, schizophrenia, learning difficulties), skin (cysts, lipomas, fibromas), sight, hormonal, etc. On occasions it can be associated with aggressive basal cell carcinomas and malignant neoplasias, for which early diagnosis and treatment is essential, as well as family detection and genetic counselling. Currently there are new lines of investigation based on biomolecular studies, which aim at identifying the molecules responsible for these cysts and thus allowing an early diagnosis of these patients. In its clinical management and follow up, the odonto-stomatologist, the maxillofacial surgeon and several other medical specialists are involved. In this paper a review of the literature, and six cases of patients affected by multi-systemic and varied clinical expression of basal cell nevus syndrome, are presented.
Díaz-Fernández
José María
JM
Servicio de Estomatología, Hospital General Universitario de Valencia, Valencia. jomadife_cmf@eresmas.com
Infante-Cossío
Pedro
P
Belmonte-Caro
Rodolfo
R
Ruiz-Laza
Luis
L
García-Perla-García
Alberto
A
Gutiérrez-Pérez
José Luis
JL
D000293:Adolescent; D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000150:complications / Q000473:pathology*; D005153:Facial Neoplasms / Q000209:etiology / Q000473:pathology / Q000601:surgery; D005260:Female; D006801:Humans; D007570:Jaw Cysts / Q000209:etiology / Q000473:pathology / Q000601:surgery; D007633:Keratins; D008297:Male; D012878:Skin Neoplasms / Q000209:etiology / Q000473:pathology / Q000601:surgery
D007633:Keratins