i n t e r n a t i o n a l j o u r n a l o f d e n t a l s c i e n c e a n d r e s e a r c h 2 ( 2 0 1 5 ) 2 0 e2 4

Available online at www.sciencedirect.com

ScienceDirect
journal homepage: www.elsevier.com/locate/ijdsr

Case Report

Gorlin Goltz syndrome: A case report

Mahesh Chander a,*, Madan Mishra b, Amit Gaur b, Tasveer Fatima c,
Shubhamoy Mondal d, Shishir Dhar d
a

Professor & Head, Department of Oral & Maxillofacial Surgery, Sardar Patel Post Graduate Institute of Dental &
Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh, India
b
Reader, Department of Oral and Maxillofacial Surgery, Sardar Patel Postgraduate Institute of Dental and Medical
Sciences, Raebareli Road, Lucknow, Uttar Pradesh, India
c
Sr. Lecturer, Department of Oral and Maxillofacial Surgery, Sardar Patel Postgraduate Institute of Dental and
Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh, India
d
Post Graduate Student, Department of Oral & Maxillofacial Surgery, Sardar Patel Post Graduate Institute of Dental
& Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh, India

article info

abstract

Article history:

Not many cases have been reported in India, and hence we report here a rare case of Gorlin

Received 10 November 2014

Goltz syndrome (GGS) especially in young patients without any skin lesions. A 21 year old

Accepted 2 February 2015

male reported to our department, with swelling in the lower posterior region of the right

Available online 26 February 2015

side of jaw since last 2 years. Thorough extraoral and intraoral examinations along with
orthopantomogram (OPG), CT scan (skull) and chest radiograph helped in proper diagnosis

Keywords:

of the condition. No skin lesion in the form of basal cell nevus, palmar or plantar pits, or

Gorlin Goltz syndrome (GGS)

keratosis were present. All the cystic lesions of the jaws were enucleated surgically and

Nevoid basal cell carcinoma (NBCC)

chemical cauterization done by Carnoy's solution. No sign of recurrence observed still date.

syndrome

Our case highlights the importance of the awareness of this rare syndrome, especially in

Odontogenic Keratocyst (OKC)

young patients without any skin lesions because early verification of the disease prevent
recurrence and better survival rates from the existent disease.
Copyright 2015, International Journal of Dental Science and Research Published by Reed
Elsevier India Pvt. Ltd. All rights reserved.

1.

Introduction

Gorlin-Goltz syndrome which is also known as nevoid basal

cell carcinoma (NBCC) Syndrome is a rare autosomal dominant disorder with strong penetrance and extremely variable
expressivity. It was reported by Jarish and White in 1894.
Robert J. Gorlin and Robort W. Goltz described the distinct

syndrome, consisting of multiple nevoid basal cell carcinomas, jaw cysts, and bifid ribs. It is characterized by multiple
odontogenic Keratocysts (OKC), multiple BCCs, skeletal,
dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri and facial
dysmorphism.1 GGS shows a predisposition to neoplasms and
other developmental abnormalities. The estimated prevalence varies from 1/57,000 to 1/256,000 among various studies,

* Corresponding author. Tel.: 91 9956984601.

E-mail address: brigmaheshchander@yahoo.co.in (M. Chander).
http://dx.doi.org/10.1016/j.ijdsr.2015.02.001
2213-9974/Copyright 2015, International Journal of Dental Science and Research Published by Reed Elsevier India Pvt. Ltd. All rights
reserved.

i n t e r n a t i o n a l j o u r n a l o f d e n t a l s c i e n c e a n d r e s e a r c h 2 ( 2 0 1 5 ) 2 0 e2 4

21

with a male-to-female ratio of 1: 1.2 Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 (q22.3-q31) and loss of, or mutations of human
patched gene (PTCH1 gene). Diagnosis is based upon established major and minor clinical and radiological criteria and
ideally confirmed by deoxyribo nucleic acid (DNA) analysis.1
The presence of two major and one minor criteria or one
major and three minor criteria are necessary to establish a
diagnosis. Early diagnosis and treatment of Gorlin Goltz syndrome, as well as family screening and genetic counseling are
essential as it may be associated in 10% of the patient with
aggressive basal cell carcinomas and malignant neoplasias.3
We examined a patient with some diagnostic features of
Gorlin Goltz syndrome.

2.

Case report

A 21 year old male reported to the department of Oral Maxillofacial Surgery in Sardar Patel Post Graduate Institute Medical
and Dental Sciences, Lucknow, India with swelling in the
lower posterior region of the right side of jaw since the last 2
years. Swelling had been gradually increasing since the last 1
year and there was mild pain associated with it (Fig. 1).
Intraoral examination revealed that the buccal sulcus on right
side was obliterated (Fig. 2). On palpation bony hard swelling
at lower right back jaw region with expansion of the buccal
cortical plates was observed. Swelling extends from distal of
right lateral incisor upto right third molar region. There was
no lingual cortical plate expansion.
Orthopantomogram (OPG) was advised which revealed
multiple round to oval radiolucencies which were suggestive
of multiple cystic lesions (Fig. 3). Five cystic lesions (one in
maxilla and four in mandible) were seen on OPG. In maxilla
cystic lesion was seen in the apical region of left lateral incisor
and in mandible large cystic lesion was seen extending from
distal of right lateral incisor upto right third molar region,
cystic lesions in the apical region of right central incisor
extend upto mesial surface of root of left canine, other two

Fig. 1 e Pre-operative profile view showing hypertelorism

and repaired cleft lip.

Fig. 2 e Intra-oral view showing obliterated buccal

vestibule.

cystic lesion around right and left third molar region. Incisional biopsy from right lower third molar region and presence of cheesy material during the procedure, suggested
presence of odontogenic keratocyst (OKC). Due to the presence of multiple cyst-like lesions in the jaws and histopathological findings, Gorlin-Goltz syndrome was suspected and
further investigations were carried out. The CT scan of skull
revealed calcification of falx cerebri (Fig. 4) and a chest X-ray
showed fused ribs, kyphoscoliosis and cardiomeagly (Fig. 5).
Patient had repaired cleft lip (Fig. 1). No skin lesion in the form
of basal cell nevus, palmar or plantar pits, or keratosis were
present.
In our patient, the diagnosis was confirmed by three major
criteria, namely multiple OKC, bifid ribs, and calcifications of
falx cerebri and three minor criteria namely repaired cleft lip,
hypertelorism and kyphoscoliosis. The hypertelorism and
repaired cleft lip are evident from patient's profile picture
(Fig. 1)
All the cystic lesions of the jaw were enucleated under
general anesthesia, along with extraction of multiple teeth
and chemical cauterization done by keeping Carnoy's solution
soaked pellet in the cystic cavity for 5 min (Fig. 6). The

Fig. 3 e Orthopantomogram shows multiple cystic lesions.

22

i n t e r n a t i o n a l j o u r n a l o f d e n t a l s c i e n c e a n d r e s e a r c h 2 ( 2 0 1 5 ) 2 0 e2 4

Fig. 4 e CT scan head showing calcified falx cerebri.

histopathologic examination of enucleated cystic tissue was

done. The histopathlogical examination confirmed the presence of odontogenic keratocyst (Fig. 7). A satisfactory healing
was observed and sutures removed on seventh postoperative
day. Patient advised to report in the department at regular
interval of one month upto 18 months follow up. No sign of
recurrence observed still date.

3.

Fig. 6 e Intra-operative view showing cystic cavity.

3.1.

Major criteria

 Multiple basal cell carcinomas or one occurring under the

age of 20 years.
 Histologically proven OKCs of the jaws.
 Palmar or plantar pits (three or more).
 Bilamellar calcifications of the falx cerebri.
 Bifid, fused, or markedly splayed ribs.
 First degree relative with nevoid basal cell carcinoma
syndrome.

Discussion

Gorlin-Goltz syndrome is an autosomal dominant disorder

with a high penetrance and variable expressivity.1 In order to
make a diagnosis of the Gorlin-Goltz syndrome, some diagnostic criteria have to be taken into account. Evans et al4 first
established major and minor criteria for the diagnosis of the
syndrome and later were modified by Kimonis et al5 in 2004.
The presence of two major and one minor or one major and
three minor criteria are necessary to establish diagnosis.1

Fig. 5 e Chest radiograph showing fused ribs,

cardiomegaly and kyphoscoliosis.

3.2.

Minor criteria

 Macrocephaly.
 Congenital malformation: Cleft lip or cleft palate, frontal
bossing, coarse face moderate or severe hypertelorism.
 Other skeletal abnormalities: Sprengel deformity, marked
pectus deformity, marked syndactyly of the digits.
 Radiological abnormalities: Bulging of sella turcica, vertebral anomalies such as hemi vertebrae, fusion or

Fig. 7 e Histopathological examination.

i n t e r n a t i o n a l j o u r n a l o f d e n t a l s c i e n c e a n d r e s e a r c h 2 ( 2 0 1 5 ) 2 0 e2 4

elongation of vertebral bodies, modeling defects of the

hands and feet, or flame-shaped hands or feet.
 Ovarian fibroma.
 Medulloblastoma.
In our patient diagnosis was made by three major criteria,
namely OKC, bifid ribs, and calcifications of falx cerebri and
three minor criteria namely repaired cleft lip, hypertelorism
and kyphoscoliosis. Regarding the site predilection, OKCs
which are associated with NBCCS are more common in the
mandible with 69% involvement, as compared to 31% in the
maxilla. In the mandible, 43% OKCs occurs in the molar ramus
region, followed by 18% in the incisor-canine area. In the
maxilla, 14% OKCs were found to occur in the incisor-canine
area, followed by molar tuberosity with 12%, 7% in the
mandibular premolar region and 3% in the maxillary premolar
region.6 In our case we also observed four cystic lesion in
mandible and one in maxilla which support the previous
study of site predilection.
Regarding the male to female ratio, it was 1:0.62 for OKCs
which were not associated with NBCCS and 1:1.22 for OKCs in
NBCCS. This shows that simple keratocysts are more common
in males, but that more females seem to have NBCCS.7 But in
our study the patient is male.
Woolgar et al in 1987 concluded that mean age group for
syndromic cases is 10e30 years. The age of our patient is 21
years which supported the study done by Woolgar et al. In
syndromic cases, more commonly maxillary molar area is
affected. Recurrence rate is higher in syndromic cases (63%).
Woolgar et al have also noted significant differences histologically. OKC associated with Basal Cell Nevus Syndrome
showed more number of satellite cyst, solid islands of
epithelial proliferation and odontogenic rests within the
capsule, and increased mitotic figures in the epithelium lining
the main cavity.8 OKC's falling in the category of Keratocystic
Odontogenic Tumor (KCOT) may be associated with GorlinGoltz Syndrome in the form of multiple cystic lesions.
Katase et al analyzed the neoplastic nature and biological
potential of sporadic and nevoid basal cell carcinoma syndrome (NBCCS)-associated KCOT. Heparanase is an endo-Dglucuronidase enzyme that specifically cleaves heparan sulfate and the increase of its level in tumors promotes invasion,
angiogenesis, and metastasis. In his study, all odontogenic
cysts have shown positive immunoreactions for the heparanase for the heparin protein in various intensities. Intense
gene and protein expressions have been observed in KCOT
associated with NBCCS, as compared with sporadic ones and
dentigerous cyst. So, heparanase expression may be correlated with the neoplastic properties of KCOT, particularly in
NBCCS associated cases.3,9 The satellite cystic, linear expansion, neoplastic nature, the recurrence rate is high.
There are different treatment modalities described in
literature to reduce the recurrence rate. The treatment of the
Gorlin Goltz syndrome is in accordance with the generally
accepted rules for the treatment of basal cell carcinomas and
keratocysts in other patients. Radiation should be avoided, as
it may trigger off the development of other tumors in the
adjacent skin areas. Cystectomy, including the removal of the
bony walls of the resulting cavity, is an adequate surgical
treatment for the odontogenic keratocysts. In the treatment of

23

the recurrent OKCs which are associated with NBCCS, the

overlying surface epithelium should be excised along with the
cystic lining to prevent recurrences from the residual epithelial islands and microcysts.10
Apart from surgical enucleation for cystic lesions, adjunctive therapies like chemical cauterization is useful to prevent
recurrence by fixing the daughter cyst or remnants of
epithelial lining that are not removed during the enucleation
procedure. Carnoy's solution is a phenolic compound with
tissue fixative properties.11 Voorsmit et al have demonstrated
that Carnoy's ssolution penetrates the bone to the depth
1.54 mm following a 5 min application without any damage to
the inferior alveolar nerve.12 In our study also followed the
same approach and done surgical enucleation and chemical
cauterization with Carnoy's solution and no reccurence
observed upto 6 month follow-up.

4.

Conclusion

Gorlin-Goltz syndrome is a well-known Autosomal Dominant

disorder. The incidence reported worldwide ranges from 1 in
50,000 to 1 in 150,000. Not many cases have been reported in
India, and hence we report here a rare case of Gorlin Goltz
syndrome. Thorough extraoral and intraoral examinations
along with OPG, CT scan (skull) and chest radiographs help in
proper diagnosis of the condition. This investigation prompts
an early verification of the disease, which is very important to
prevent recurrence and better survival rates from the existent
diseases. OKC of the jaws which can cause disfigurement of
the face, mobility and even loss of teeth can be avoided by
early detection and treatment of the same.
Our case highlights the importance of the awareness of
this rare syndrome, especially in young patients without any
skin lesions. It is useful to keep in mind the existence of this
syndrome and to recognize the presence of some major
criteria that are easily recognizable in the CT scan of the head
and neck, to thus establish the diagnosis and proceed for early
treatment.

Conflict of interest
All authors have none to declare.

references

1. Joshi PS, Deshmukh V, Goigire S. Gorlin Goltz syndrome-case

report. Dent Res J. 2012;9(1):100e106.
2. Pandeshwar P, Jayanthi K, Mahesh D. Gorlin Goltz syndromecase report. Case Reports Dent. 2012:1e4.
3. Jawa DS, Sircar R, Somani R, Grover N, Jaidka S, Singh S. Goltz
syndrome-case report. J Oral Maxillofac Pathol. 2009;13:89e92.
4. Evans DG, Ladusans EJ, Rimmer S, Burnell LD, Thakker N,
Farndon PA. Complications of the naevoid basal cell
carcinoma syndrome: result of a population based study. J
Med Genet. 1993;30:460e464.
5. Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B.
Radiological features in 82 patients with nevoid basal cell

24

6.
7.
8.

9.

i n t e r n a t i o n a l j o u r n a l o f d e n t a l s c i e n c e a n d r e s e a r c h 2 ( 2 0 1 5 ) 2 0 e2 4

carcinoma (NBCC or Gorlin) syndrome. Genet Med.

2004;6:495e502.
Garg P, Karjodkar F, Garg SK. Gorlin Goltz syndrome-case
report. J Clin Diagnostic Res. 2011;5(2):393e395.
Kannan KS, Sundharam SB, Manikandan R. Nevoid basal cell
carcinoma syndrome. IJDR. 2006;17(1):50e53.
Woolgar JA, Rippen JW, Browne RM. The odontogenic
keratocyst and its occurrence in the nevoid basal cell
carcinoma syndrome. Oral Surg Oral Med Oral Pathol.
1987;64:727e730.
Shear M. The aggressive nature of odontogenic keratocyst: is
it a benign cystic neoplasm? Part 3 immunocytochemistry of

cytokeratin and other epithelial marker. Oral Oncol.

2002;38:407e415.
10. Myoung H, Hong SP, Hong SD, Lee JI, Lim CY. Choung PH and
others. Odontogenickeratocyst: review of 256 cases for
recurrence and clinic-pathologic parameters. Oral Surg Oral
Med Oral Pathol Oral Radiol Endod. 2001;91(3):328e333.
11. Rai S, Gauba K. Jaw cyst-basal nevus syndrome- Bifid Rib
syndrome: a case report. J Indian Soc Pedod Prev Dent.
2007;25:137e139.
12. Voormit RA, Stollinga PT, van Hallst VJ. The management of
keratocyst. J Maxillofac Surg. 1981;9:228e236.