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A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin–Goltz syndrome
Gozde Ozcan1, Burhan Balta2, Ahmet Ercan Sekerci1, Osman A Etoz3, Claudia Martinuzzi4, Ozlem Kara5, Lorenza Pastorino4, Fatma Kocoglu1, Omer Ulker1, Murat Erdogan2
1 Department of Oral and Maxillofacial Radiology, Faculty of Dentistry, Erciyes University, Kayseri, Turkey
2 Department of Medical Genetics, Kayseri Education and Research Hospital, Kayseri, Turkey
3 Department of Oral and Maxillofacial Surgery, Faculty of Dentistry, Erciyes University, Kayseri, Turkey
4 Genetics of Rare Cancers, IRCCS Azienda Ospedaliera Universitaria San Martino, IST Istituto Nazionale per la Ricerca sul Cancro, Genova, Italy
5 Department of Pathology, Faculty of Medicine, Erciyes University, Kayseri, Turkey
Correspondence Address:
Dr. Gozde Ozcan
Department of Oral and Maxillofacial Radiology, Faculty of Dentistry, Erciyes University, 38039 Kayseri
Turkey
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0377-4929.188148
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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. |
