All issues > Volume 50(8); 2007

Case Report

Korean J Pediatr. 2007;50(8):789-793. Published online August 15, 2007.

Basal cell nevus syndrome (gorlin syndrome) confirmed by PTCH mutations and deletions

Hee Moon HM Kim¹, Chul Hee CH Lee¹, Sung Koo SK Kim¹, Tae Jung TJ Sung¹

¹Department of Pediatrics, Kangnam Sacred Heart Hospital, College of Medicine, Hallym University, Seoul, Korea

Correspondence Tae Jung TJ Sung ,Email: neosung@hallym.or.kr

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.

Keywords :Basal cell nevus syndrome, Odontogenic keratocyst, PTCH mutation