A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin-Goltz syndrome

作者：Ozcan Gozde^*; Balta Burhan; Sekerci Ahmet Ercan; Etoz Osman A; Martinuzzi Claudia; Kara Ozlem; Pastorino Lorenza; Kocoglu Fatma; Ulker Omer; Erdogan Murat

来源：Indian Journal of Pathology and Microbiology, 2016, 59(3): 335-338.

DOI：10.4103/0377-4929.188148

• Gorlin-Goltz syndrome
• nevoid basal cell nevus syndrome
• odontogenic keratocyst
• pediatric
• PTCH1 gene

Gorlin-Goltz syndrome (GGS) is an uncommon autosomal dominant inherited disorder which comprises the triad of basal cell carcinomas (BCCs), odontogenic keratocysts, and musculoskeletal malformations. Besides this triad, neurological, ophthalmic, endocrine, and genital manifestations are known to be variable. It is occasionally associated with aggressive BCC and internal malignancies. This report documents a case of GGS with a novel mutation in the PTCH1 gene in an 11-year-old child. The clinical, radiographic, histopathologic and molecular findings of this condition, and treatment are described, and a review of GGS was carried out.

• 出版日期2016-9