Nevoid basal cell carcinoma (Gorlin-Goltz) syndrome: an incidental finding

Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is a rare condition characterised by skeletal abnormalities, odontogenic keratocysts and basal cell nevi. Diagnosis of this condition is based on major and minor clinical and radiological criteria. Oral medicine and radiology specialists are crucial in diagnosing this condition due to the oral and maxillofacial symptoms. However, conventional radiographs may not provide enough information for an accurate diagnosis, including the two-dimensional imaging modalities. Therefore, the importance of advanced digital imaging for diagnosis is highlighted in this case report of a male patient in his late 20s. The patient had missing teeth and asymptomatic multiple swelling in the orofacial region for 2 months. Routine clinical examination, radiographic investigations and histopathological evaluation led to incidental finding of multiple cystic lesions in the maxillary and mandibular region which on further evaluation led to the final diagnosis of Gorlin-Goltz syndrome.

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Publication Details

Journal
BMJ Case Reports
Published
2024-08-01
DOI
https://doi.org/10.1136/bcr-2024-259937
Citations
1
Primary Topic
Hedgehog Signaling Pathway Studies
Type
article
Field-Weighted Citation Impact
0.23
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article

Nevoid basal cell carcinoma (Gorlin-Goltz) syndrome: an incidental finding

Mahesh Kaggare Puttaraju, Meera Theenathayalan
1 citations
BMJ Case Reports
Hedgehog Signaling Pathway Studies
0.23
article

Nevoid basal cell carcinoma (Gorlin-Goltz) syndrome: an incidental finding

Mahesh Kaggare Puttaraju, Meera Theenathayalan
article en
1 citations

Abstract

Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is a rare condition characterised by skeletal abnormalities, odontogenic keratocysts and basal cell nevi. Diagnosis of this condition is based on major and minor clinical and radiological criteria. Oral medicine and radiology specialists are crucial in diagnosing this condition due to the oral and maxillofacial symptoms. However, conventional radiographs may not provide enough information for an accurate diagnosis, including the two-dimensional imaging modalities. Therefore, the importance of advanced digital imaging for diagnosis is highlighted in this case report of a male patient in his late 20s. The patient had missing teeth and asymptomatic multiple swelling in the orofacial region for 2 months. Routine clinical examination, radiographic investigations and histopathological evaluation led to incidental finding of multiple cystic lesions in the maxillary and mandibular region which on further evaluation led to the final diagnosis of Gorlin-Goltz syndrome.

BMJ Case ReportsVol. 17(8)
JSS Academy of Higher Education and Research (IN)
Good health and well-being
Openalex Percentile: Top 43%
Hedgehog Signaling Pathway Studies
0.23
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Nevoid basal cell carcinoma (Gorlin-Goltz) syndrome: an incidental finding — Mahesh Kaggare Puttaraju, Meera Theenathayalan · BMJ Case Reports (2024) | TGRS Research Map | TGRS