gorlin- goltz syndrome: a case report and review of literature

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Official Publication of Orofacial Chronicle , India

www.jhnps.weebly.com

REVIEW ARTICLE

Gorlin- Goltz Syndrome: A Case Report and Review

of Literature

Sumit Chopra MDS1, Abhiney Puri MDS

2, Ankit Aggarwal MDS

3, Gaurav

Verma MDS4

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 Ar ticle: Sumit Chopra , Abhiney P , Anki t A, Gaurav V: Gorlin- Goltz Syndrome:

A Case Report and Review of Literature , Journal of Head & Neck physicians and

sur geons Vol 2 I ssue 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 knownas 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 4th 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 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



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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 4rd

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 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].



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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 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

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 toGorlin 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 Med2004; 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- [email protected]

________________________________________________________________________

mailto:[email protected]



gorlin- goltz syndrome: a case report and review of literature

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