Basal cell nevus syndrome (gorlin syndrome) confirmed by PTCH mutations and deletions.
10.3345/kjp.2007.50.8.789
- Author:
Hee Moon KIM
1
;
Chul Hee LEE
;
Sung Koo KIM
;
Tae Jung SUNG
Author Information
1. Department of Pediatrics, Kangnam Sacred Heart Hospital, College of Medicine, Hallym University, Seoul, Korea. neosung@hallym.or.kr
- Publication Type:Case Report
- Keywords:
Basal cell nevus syndrome;
Odontogenic keratocyst;
PTCH mutation
- MeSH:
Basal Cell Nevus Syndrome*;
Carcinoma, Basal Cell;
Child;
DNA;
Humans;
Jaw;
Male;
Odontogenic Cysts;
Ribs;
Scoliosis
- From:Korean Journal of Pediatrics
2007;50(8):789-793
- CountryRepublic of Korea
- Language:English
-
Abstract:
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is a rare autosomal dominant disorder characterized by variable manifestations, including multiple basal cell carcinomas, odontogenic keratocysts of the jaw, skeletal anomalies including scoliosis and bifid ribs, palmar and plantar pits, calcification of the falx cerebri, and biparietal frontal bossing. We report a case of a 9-year-old boy with the clinical features of basal cell nevus syndrome, in which a PTCH gene mutation was confirmed by DNA testing.
