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. 2012:2012:247239.
doi: 10.1155/2012/247239. Epub 2012 Oct 3.

Gorlin-goltz syndrome

Padma Pandeshwar  1 , K Jayanthi, D Mahesh
Affiliations

Gorlin-goltz syndrome

Padma Pandeshwar et al. Case Rep Dent. 2012.

Abstract

The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome-NBCCS) is a rare autosomal dominant syndrome caused due to mutations in the PTCH (patched) gene found on chromosome arm 9q. The syndrome, characterized by increased predisposition to develop basal cell carcinoma and associated multiorgan anomalies, has a high level of penetrance and variable expressiveness. GGS is a multidisciplinary problem, early diagnosis of which allows introduction of secondary prophylaxis and following an appropriate treatment to delay the progress of the syndrome. The following report emphasizes the need for awareness of the diagnostic criteria of this syndrome in cases with no typical skin lesions.

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Figures

Figure 1
Figure 1
Broad nasal bridge.
Figure 2
Figure 2
Intraoral swelling in relation to 46, 45.
Figure 3
Figure 3
Bifid rib right 4th and 8th rib anteriorly.
Figure 4
Figure 4
Panoramic radiograph showing cystic lesions in the mandible.
Figure 5
Figure 5
Axial CT of brain showing calcification of falx cerebri.
Figure 6
Figure 6
CT scan showing cystic lesions of body and condyle of the mandible.
See this image and copyright information in PMC

References

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