Korean J Pediatr.  2007 Aug;50(8):789-793. 10.3345/kjp.2007.50.8.789.

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

• Kim HM
• Lee CH
• Kim SK
• Sung TJ

• KMID: 2279203
• DOI: http://doi.org/10.3345/kjp.2007.50.8.789

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.

Keyword

Basal cell nevus syndrome; Odontogenic keratocyst; PTCH mutation

MeSH Terms

Basal Cell Nevus Syndrome*
Carcinoma, Basal Cell
Child
DNA
Humans
Jaw
Male
Odontogenic Cysts
Ribs
Scoliosis
DNA