Open AccessA novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin–Goltz syndrome
Author(s) -
Gözde Özcan,
Burhan Balta,
Ahmet Ercan Şekerci,
Osman A. Etöz,
Claudia Martinuzzi,
Özlem Kara,
Lorenza Pastorino,
Fatma Koçoğlu,
Ömer Ülker,
Murat Erdoğan
Publication year - 2016
Publication title -
indian journal of pathology and microbiology/indian journal of pathology and microbiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.217
H-Index - 31
eISSN - 0974-5130
pISSN - 0377-4929
DOI - 10.4103/0377-4929.188148
Subject(s) - keratocystic odontogenic tumor , odontogenic , ptch1 , medicine , genetics , mutation , gene , biology , bioinformatics , pathology , hedgehog
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.