Basal cell nevus syndrome: clinical and genetic diagnosis.
BACKGROUND
Basal cell nevus syndrome (BCNS), also known as Gorlin-Goltz syndrome, comprises five main pathological features: nevoid basal cell carcinomas, keratocystic odontogenic tumors, congenital skeletal anomalies, calcification of the falx cerebri, and point skin depressions on the palms and/or soles. The disease exhibits a dominant autosomal hereditary trait, with implication of the human homologue of the Drosophila segment polarity Patched (PTCH) gene. BCNS is diagnosed on the basis of clinical and radiological criteria and can be confirmed by genetic study. The patient prognosis is very good, with normal life expectancy in most cases.


METHODS
The present study reports two cases of BCNS with the presence of maxillo-mandibular keratocystic odontogenic tumors.


RESULTS
One case was diagnosed according to clinical criteria, while the other required genetic confirmation that revealed a germ line mutation in exon 17 (c.2868delC), not previously described in the databases, which was considered to be responsible for the disease.
García de Marcos
José A
JA
Service of Oral and Maxillofacial Surgery, Albacete University Hospital Complex, Albacete, Spain. pepio2@hotmail.com
Dean-Ferrer
Alicia
A
Arroyo Rodríguez
Susana
S
Calderón-Polanco
Javier
J
Alamillos Granados
Francisco J
FJ
Poblet
Enrique
E
D001478:Basal Cell Nevus Syndrome / Q000235:genetics* / Q000473:pathology*; D002648:Child; D002899:Chromosomes, Human, Pair 9; D018389:Codon, Nonsense; D005260:Female; D016368:Frameshift Mutation; D018095:Germ-Line Mutation; D006801:Humans; D007573:Jaw Neoplasms / Q000235:genetics* / Q000473:pathology*; D008297:Male; D009807:Odontogenic Cysts / Q000473:pathology; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface / Q000235:genetics
D018389:Codon, Nonsense; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface