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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Bahl, Sumit Anchlia, Sonal Nagavadiya, Vipul Vyas, Siddharth |
| Description | Author Affiliation: Anchlia S ( Department of Oral & Maxillofacial Surgery, Government Dental College & Hospital, Ahmedabad, Gujarat, India.); Vyas S ( Department of Oral & Maxillofacial Surgery, Government Dental College & Hospital, Ahmedabad, Gujarat, India.); Bahl S ( Department of Oral & Maxillofacial Pathology, KM Shah Dental College, Ahmedabad, Gujarat, India.); Nagavadiya V ( Department of Oral & Maxillofacial Surgery, Government Dental College & Hospital, Ahmedabad, Gujarat, India.) |
| Abstract | Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is caused by genetic alteration produced by a mutation in the 'patched' tumour suppressor gene, and is inherited in a dominant autosomal way. Although sporadic cases have been found, this syndrome has rarely been reported in twin patients. The syndrome is characterised by a wide range of developmental abnormalities and has a predisposition to neoplasms such as multiple pigmented basal cell carcinomas and keratocysts in jaws; it also has other features such as palmar and/or plantar pits and calcification of falx cerebri. Owing to the critical oral and maxillofacial manifestations of this syndrome, it is important to recognise its characteristics in order to make a diagnosis, and to plot early preventive treatment and establish the right genetic evidence. Based on a combination of imaging, clinical and histopathological findings, we present a diagnosed case of Gorlin-Goltz syndrome in 18-year-old twin brothers. All cystic lesions were enucleated and 1â year follow-up showed no recurrence. |
| Volume Number | 2015 |
| e-ISSN | 1757790X |
| Journal | BMJ Case Reports |
| Language | English |
| Publisher | BMJ Publishing Group Ltd. |
| Publisher Place | Great Britain (UK) |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Basal Cell Nevus Syndrome Diagnosis Calcinosis Skull Spinal Dysraphism Adolescent Humans Imaging, Three-Dimensional Male Radiography Twins Case Reports Journal Article Review Multidisciplinary |
| Content Type | Text |
| Resource Type | Article |
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