83 Official Publication of Orofacial Chronicle , India www.jhnps.weebly.com REVIEW ARTICLE Gorlin- Goltz Syndrome: A Case Report and Review of Literature Sumit Chopra MDS 1 , Abhiney Puri MDS 2 , Ankit Aggarwal MDS 3 , Gaurav Verma MDS 4 1-Reader 3- PG student 4- Senior Lecturer , Dept of Oral & Maxillofacial Surgery 2-Professor & Head, Dept of Oral & Maxillofacial pathology Himachal Institute of Dental Sciences, Himachal Pradesh, India ABSTRACT: Gorlin-Goltz syndrome is an uncommon, infrequent multi-systemic disease, which is inherited in an autosomal dominant way, leading to a high level of penetrance and variable expressiveness. It is characterised by multiple basal cell carcinoma, multiple odontogenic keratocysts, and musculoskeletal malformations. Sometime it leads to aggressive basal cell carcinoma and other internal malignancies. Early diagnosis and prompt treatment are essential in patients having Gorlin-Goltz syndrome. We have documented a patient with characteristic symptoms of Gorlin- Goltz syndrome with review of literature. KEY WORDS: Gorlin-Goltz syndrome, Nevoid Basal Cell Carcinoma Syndrome (NBCCS), basal cell carcinoma and bifid rib. Cite thi s Ar ticle: Sumit Chopra , Abhi ney P , Anki t A, Gaurav V: Gorlin- Goltz Syndrome: A Case Report and Review of Literature , Jour nal of H ead & Nec k phys ici ans and s ur ge ons Vol 2 I s s ue 1 2014 : Pg83-90
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Gorlin- Goltz Syndrome: A Case Report and Review of Literature
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8/12/2019 Gorlin- Goltz Syndrome: A Case Report and Review of Literature
simple conservative and/or aggressive surgical means. The conservative approach
involves cyst enucleation and peripheral osteoctomy. However, presence of five
multiple odontogenic keratocysts and their occurrence at such a young age
warranted the use of aggressive surgical modality. The surgery included removal
of all involved teeth along with complete cyst enucleation, followed by use ofchemical cauterization using carnoy’s solution. The surgical defect thus created
was rinsed and irrigated to make it free of debris and necrotic material; along with
it peripheral ostectomy of the irregular bony margins was performed.
Histopathology of all five soft tissue specimens showed parakeratinized stratified
squamous epithelium overlying connective tissue wall. The parakeratin exhibited a
wavy or corrugated appearance. The basal epithelial layer is composed of a
pallisaded layer of cuboidal or columnar epithelial cells, which werehyperchromatic in some areas. The epithelium was thrown into multiple folds and
few satellite cysts were also seen with in the fibrous wall. Epithelium was abrupted
from connective tissue in some areas (figure5) [2]. The radiological features and
inclusion of two major criterias along with histopathological findings were
suggestive of Gorlin- Goltz syndrome.
Figure 1- Wide nasal bridge
8/12/2019 Gorlin- Goltz Syndrome: A Case Report and Review of Literature
appearance of keratinised epithelium of odontogenic keratocyst (H & E 40x)
DISCUSSION:
Gorlin-Goltz syndrome was first described by Jarisch and White in 1894 but in
1960 Gorlin and Goltz established it as a unique syndrome. The main etiological
factor involved in NBCCS, is attributed to abnormality linked to the long arm of
chromosome no.9 (q 22.3- q31) PTCH1 gene with no apparent heterogenecity.
This gene was isolated in 1996 as the human homolog of the drosophila PTCH1gene. NBCCS includes multi-systemic abnormalities like skeletal defect, ectopic
calcification of the CNS, ocular system, genito- urinary system, mesenteric cyst,
stomatogenic system and cardiovascular system. Basal cell carcinoma, jaw cysts
and skeletal anomalies are the basic triad of this syndrome [3-6].
The occurrence of basal cell carcinoma show a wide range of variance between
40% in black races affected with NBCCS, while in whites they are reported up to
90%. The occurrence of odontogenic keratocyst has been reported to be more than50%, during first decade of life in patients suffering from NBCCS [3-6]. The
diagnostic criteria based on the most specific feature for NBCCS was established
by Evan’s et al and modified by Kimoni’s et al in 1997. According to them,
diagnosis of Gorlin-Goltz syndrome can be established when two major or one
major and two minor criteria are present as described below [7].
8/12/2019 Gorlin- Goltz Syndrome: A Case Report and Review of Literature
Our case highlights the severity of Gorlin-Goltz syndrome along with its
aggressive nature and extensive involvement in young age without anymalignancies in the skin. This rare syndrome is presented with two major criteria’s
and one minor criteria that could be easily identified on routine radiological
investigations. Once diagnosed, this condition demands extensive follow-up and
further diagnosis to initiate a prompt and effective treatment plan. The core of its
resolution lies in early detection, thorough clinical evaluation and detailed family
history of the patient. A multi-disciplinary approach is therefore mandatory in the
recognition and treatment of this syndrome as this will decrease the morbidity and