A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin–Goltz syndrome.
Date
2016-07
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Abstract
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.
Description
Keywords
Gorlin–Goltz syndrome, nevoid basal cell nevus syndrome, odontogenic keratocyst, pediatric, PTCH1 gene
Citation
Ozcan Gozde, Balta Burhan, Sekerci Ahmet Ercan, Etoz Osman A, Martinuzzi Claudia, Kara Ozlem, Pastorino Lorenza, Kocoglu Fatma, Ulker Omer, Erdogan Murat. A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin–Goltz syndrome. Indian Journal of Pathology & Microbiology. 2016 July-Sept 59(3): 335-338.