Gorlin-Goltz Syndrome - A Rare Cause of Recurrent Jaw Pain in a Young Child

Monika Gupta,Brij B Thukral,Kanhaiya Agrawal,Mahesh K Mittal,Amit Kumar Agarwal

doi:10.7759/cureus.313

Abstract

Gorlin-Goltz syndrome is an infrequent multisystem disease. At least two major criteria or one major and two minor criteria must be present to make the diagnosis. However, the most important criteria are the presence of basal cell carcinomas, odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcification of falx cerebri. It is necessary to identify the syndrome early due to its predisposition to cancer. An early diagnosis can be made using a multi-disciplinary approach. We report a rare case of an 11-year-old boy with this syndrome with an additional unusual finding of gynaecomastia.

Highlights

Gorlin-Goltz syndrome is a rare multisystem disease with an autosomal dominant inheritance with high level of penetrance and variable expressiveness [1]
Studies regarding the cell cycle of human T lymphocytes, human periodontal disease, and human bone augmentation established that more genes belonged to leader- or B-cluster; the resulting number of higher cluster genes was in accordance with the increasing set of genes, which were either candidates to be associated or were found to be robustly associated with osteoporotic disease [4,5]. This syndrome is known by several names, such as nevoid basal cell carcinoma syndrome, Gorlin- syndrome, basal cell nevus syndrome, fifth phacomatosis, multiple basilioma syndrome, hereditary cutaneomandibular polyoncosis, and the most complex one, "Jaw-cyst-basal-cell-nevus, bifid rib syndrome" [6,7]
Nevoid basal cell carcinoma syndrome (NBCCS) and mullerian fusion defects have been found to be associated in the literature [8]

Summary

Introduction

Gorlin-Goltz syndrome is a rare multisystem disease with an autosomal dominant inheritance with high level of penetrance and variable expressiveness [1]. Studies regarding the cell cycle of human T lymphocytes, human periodontal disease, and human bone augmentation established that more genes belonged to leader- or B-cluster; the resulting number of higher cluster genes was in accordance with the increasing set of genes, which were either candidates to be associated or were found to be robustly associated with osteoporotic disease [4,5] This syndrome is known by several names, such as nevoid basal cell carcinoma syndrome, Gorlin- syndrome, basal cell nevus syndrome, fifth phacomatosis, multiple basilioma syndrome, hereditary cutaneomandibular polyoncosis, and the most complex one, "Jaw-cyst-basal-cell-nevus, bifid rib syndrome" [6,7]. A CECT face was done which revealed multiple expansile non-enhancing cystic areas with cortical thinning involving the mandible (Figure 4) Some of these lesions were associated with an unerupted tooth (Figure 5). The histopathological report was suggestive of multiple odontogenic keratocysts (OKC) (Figure 8)

Discussion

Findings

Conclusions

Disclosures