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Official Publication of Orofacial Chronicle , India


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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 this Article: Sumit Chopra , Abhiney P , Ankit A, Gaurav V: Gorlin- Goltz Syndrome:
A Case Report and Review of Literature , J ournal of Head & Neck physicians and
surgeons Vol 2 Issue 1 2014 : Pg83-90





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INTRODUCTION:

Gorlin-Goltz syndrome is known by various names like basal cell nevus jaw cyst
bifid rib syndrome, nevoid basal cell carcinoma syndrome and jaw cyst basal cell
tumour- skeletal anomalies syndrome. At present, Gorlin-Goltz syndrome is known
as nevoid basal cell carcinoma syndrome (NBCCS). Professor Gorlin suggested
this syndrome due to mutation in the PTCH 1 gene. This gene acts as a tumour
suppressor gene located on long arm of chromosome no. 9. Gorlin-Goltz in 1960
firstly described the syndrome as a classical triad of basal cell carcinoma,
odontogenic keratocyst and bifid ribs, which are peculiar for establishing a
diagnosis of Gorlin-Goltz syndrome. The estimated prevalence rate differs from
1/57,000 to 1/2,56,000 with an equal ratio between male and female (1:1) [1].

CASE REPORT

An 18 years old male patient reported to the department of oral and maxillofacial
surgery with a chief complaint of intraoral swelling in right posterior maxillary
region and right posterior region of the lower jaw. Patient also had mild salty
discharge from these swellings for the past 3 months.
On examination, a wide nasal bridge was observed extra orally (figure1).
Intraorally the swelling was firm and non-tender. Routine radiological
investigations were carried out for diagnosis.

The Orthopantomogram (OPG) revealed multiple cystic lesions in both maxilla
and mandible with multiple unerupted permanent teeth (figure2).CT-SCAN was
advised for further evaluation. Limited pre contrast followed by post contrast axial
and coronal sections was obtained. The CT-Scan revealed well marginated lytic
lesions (figure3). The patient was suspected to be suffering from Gorlin-Goltz
syndrome and a chest radiograph was taken for further diagnostic clarification. The
chest radiograph revealed 4
th
bifid rib on the right side (figure4).

Based on the clinical and radiological findings, a provisional diagnosis of Gorlin-
Goltz syndrome was made. No skin lesions in form of palmer, plantar pits and
keratosis were noticed. There was no clinical presence of malignancy or basal cell
carcinoma elsewhere on the skin. Usually odontogenic keratocyst is treated by

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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 of
chemical cauterization using carnoys 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 were
hyperchromatic 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

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Figure 2- OPG showing multiple
radiolucencies.
Figure 3- Three dimensional CT-SCAN
showing multiple lytic areas in maxilla and posterior mandibular region.
Figure 4- Bifid 4
rd
rib (PA view)

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Figure 5- Typical histopathological
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 PTCH1
gene. 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 than
50%, 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 Evans et al and modified by Kimonis 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].

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Diagnostic criteria for Gorlin-Goltz syndrome

Major criteria:
1. More than two basal cell carcinomas or one in patients <20 years old.
2. Odontogenic keratocysts of the jaws proven by histopathology.
3. Palmer or planter pits (3 or more).
4. Bilamellar calcification of the falx cerebri.
5. Bifid, fused or markedly splayed ribs.
6. First degree relatives with NBCCS.

Minor criteria:
1. Macrocephaly determined after adjustment for height.
2. Congenital malformation: cleft lip or palate, frontal bossing,coarse face,
moderate or severe hypertelorism.
3. Other skeletal abnormalities: sprengel deformity, marked pectus deformity,
marked syndactyly of the digits.
4. Radiological abnormalities: bridging of the sella turcica, vertebral anomalies
such as hemivertebrae, fusion or elongation of the vertebral bodies, modelling
defects of the hands and feet, or flame- shaped lucencies of the hand or feet.
5. Ovarian fibroma.
6. Medulloblastoma.

Early diagnosis of Gorlin-Goltz syndrome is very crucial for the life of the affected
patient, considering the risk of developing malignancies, such as aggressive skin
cancer and malignant tumours like medulloblastoma. It is essential to screen for
medulloblastoma in the early years of life because of its aggressive behaviour
which leads to early death [3-6]. A genetic counsellor is therefore recommended
for antenatal diagnosis of this syndrome. It is performed by ultrasound scanning
and DNA analysis of fetal cells acquired by aminocentesis. A gene-mutation
analysis can be done to confirm the diagnosis of this syndrome [3-6].





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CONCLUSION:

Our case highlights the severity of Gorlin-Goltz syndrome along with its
aggressive nature and extensive involvement in young age without any
malignancies in the skin. This rare syndrome is presented with two major criterias
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
mortality.

REFERENCES:

1. Kiran NK, Tilak Raj TN, Mukunda KS, Reddy VR. Nevoid basal cell carcinoma
syndrome (Gorlin-Goltz syndrome). Contemp Clin Dent 2012; 3(4):514-8.
2. de Amezaga AOG, Arregui OG, Nuno SZ, Sagredo AA, Urizar JMA. Gorlin-Goltz
syndrome: Clinicopathologic aspects. Med Oral Patol Oral Cir Bucal 2008; 13(6):E338-
43.
3. Yucetas S, Cetiner S, Oygur T. Suspected familial odontogenic keratocysts related to
Gorlin Goltz syndrome. Saudi Med J 2006; 27(2):250-3.
4. Shekar CL, Sathish R, Beena S, Ganeshan S. Gorlin Goltz syndrome. J Dent Sci Res
2011; 2(2):56-8.
5. Ljubenovic M, Ljubenovic D, Binic I, Jovanovic D, Stanojevic M. Gorlin-Goltz
syndrome. Acta Dermatoven APA 2007; 16(4):166-9.
6. Kalogeropoulou C, Zampakis P, Kazantzi S, Kraniotis P, Mastronikolis NS. Gorlin-
Goltz syndrome: Incidental finding on routine CT scan following car accident. BioMed
Central Cases J 2009, 2:9087.
7. Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B. Radiological features in
82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med
2004; 6(6):495-502.





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Acknowledgement- None

Source of Funding- Nil

Conflict of Interest- None Declared

Ethical Approval- Not Required



Correspondence Addresses :
Ankit Aggarwal,
Postgraduate Student,
Department of Oral & Maxillofacial Surgery,
Himachal Institute of Dental Sciences,
Paonta Sahib, Himachal Pradesh, India.
Phone Number- +919857246753
E Mail- ankit.agg86@yahoo.in



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