A novel PTCH1 gene mutation in a pediatric patient associated multiple keratocystic odontogenic tumors of the jaws and Gorlin–Goltz syndrome.
Indian J Pathol Microbiol
;
2016 July-Sept 59(3): 335-338
Article
in English
| IMSEAR
| ID: sea-179569
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.
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Index:
IMSEAR (South-East Asia)
Language:
English
Journal:
Indian J Pathol Microbiol
Year:
2016
Type:
Article
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