Gorlin Goltz syndrome (GGS) is a rare syndrome caused due to inheritance of autosomal dominant gene with the exception of sporadic mutation cases. The tumor suppressor gene known as Patched (PTCH) present in the 9q chromosome have been identified as the cause of GGS. Gorlin Goltz presents with a wide range of developmental anomalies and predisposition to neoplasm. It is of significance to rule out GGS in patients with multiple odontogenic keratocysts (OKT/OKC). To date, very few cases of GGS has been reported in India. We hereby present a case of multiple keratocysts in the mandible and maxilla, which on further evaluation revealed, various skeletal, facial and cutaneous anomalies leading to diagnosis of the Gorlin Goltz syndrome. This case report discusses clinical and radiological presentation of GGS and management of its different clinically presenting manifestations with special emphasis on OKT

Kumar, Amit

Mokhtar, Ejaz Ahmad

Mukul, Sailesh K

Pandey, Shweta

English

Atharva Scientific Publications (E-Jounals)

Mukul et al                                Gorlin Goltz Syndrome 
Vol 6| Issue 2| Apr – Jun 2017                                                                          J Orofac Res 14 
Case Report 
Gorlin Goltz Syndrome: A Case Report and Discussion on Diagnosis and 
surgical management 
Sailesh K Mukul, Amit Kumar, Ejaz Ahmad Mokhtar, Shweta Pandey 
From, Department of Dentistry, All India Institute of Medical Sciences, Patna, Bihar, India 
Correspondence to: Dr Sailesh Kumar Mukul, Department of Dentistry, Room no 223, Ayush PMR Building, AIIMS 
Hospital Campus, Phulwari Sharif, Patna, Bihar, India. Email: drsaileshm@aiimspatna.org 
Received: 20 Feb 2017                               Initial Review: 05 Mar 2017                                 Accepted:  06 Apr 2017   
ABSTRACT 
Gorlin Goltz syndrome (GGS) is a rare syndrome caused due to inheritance of autosomal dominant gene with the exception of 
sporadic mutation cases. The tumor suppressor gene known as Patched (PTCH) present in the 9q chromosome have been 
identified as the cause of GGS. Gorlin Goltz presents with a wide range of developmental anomalies and predisposition to 
neoplasm. It is of significance to rule out GGS in patients with multiple odontogenic keratocysts (OKT/OKC). To date, very 
few cases of GGS has been reported in India. We hereby present a case of multiple keratocysts in the mandible and maxilla, 
which on further evaluation revealed, various skeletal, facial and cutaneous anomalies leading to diagnosis of the Gorlin Goltz 
syndrome. This case report discusses clinical and radiological presentation of GGS and management of its different clinically 
presenting manifestations with special emphasis on OKT. 
Keywords: Gorlin-Goltz syndrome; Odontogenic keratocysts; PTCH1gene; Falx cerebri calcification. 
 
orlin Goltz syndrome is a rare multisystemic 
disease, which is inherited in an autosomal 
dominant way. It show penetrance of high level 
and variable expressiveness [1]. This syndrome is known 
by several different names such as "basal cell nevus 
syndrome” [2] and "nevoid basal cell carcinoma". Jarisch 
and White in 1894 was first to describe this syndrome but 
it was in 1960 when Gorlin and Goltz  established a classic 
triad, which characterizes the diagnosis of this syndrome, 
basocellular epitheliomas, keratocysts in the jaws and bifid 
ribs [3]. Generally, multiple OKT may be the first 
presenting symptom for which a subject seeks physician 
advice, which are mainly dentists [4]. This syndrome 
affects all the ethnic groups with equal predisposition in 
male and female genders. 
Goldstein et al has done extensive work on GGS and 
has compiled 22 case records till 2012 [5]. Prevalence  
 
varies according to the country [6]. Prevalence of 1 in 
60,000 is accepted. 
Studies have revealed wide spectrum of development 
defects and tumors associated with individual affected by 
Gorlin Goltz syndrome rather than the historical classical 
triad [6]. More than 100 minor features have been 
described as for this syndrome [7] and all the clinical 
manifestations of GGS is not necessary to be present for a 
diagnosis. It is seen with mutations in patched 1 gene 
(PTCH1) [8]. 
CASE REPORT 
A 20-year-old female reported to the outpatient department 
of Dentistry with chief complaint of limited mouth 
opening and constant dull pain in both sides of the lower 
jaw. The subject was being treated elsewhere by general  
G 
Mukul et al                                Gorlin Goltz Syndrome 
Vol 6| Issue 2| Apr – Jun 2017                                                                          J Orofac Res 15 
physician for cysts in the jaw. She had a previous history 
of dental treatment where incisional biopsy and iodoform 
gauze packing of the bony lesion of the lower jaw was 
done. The subject was otherwise healthy and had no 
previous significant medical history. Although the face 
was bilaterally symmetrical, the frontal view showed 
flattening of the nasal bridge. There was a presence of 
frontal bossing.Intra oral examination revealed complete 
permanent dentition with missing third molars. DMFT 
score was zero and no other periodontal problems were 
diagnosed. Bilaterally in the retro molar region, medicated 
gauze packs were seen in the bony cavity, which foul 
smelled. Limited mouth opening was associated with 
muscle spasm due to secondary infection. 
 
Figure 1 - Radiolucent areas with sclerotic border 
bilaterally in angle and body of mandible and the left side 
of maxilla, along with involving teeth 
  
Figure II (a to c); showing skeletal changes; (a) plain radiograph of cervical spine, anteroposterior view, showing elongated 
transverse process on the right side (thick white arrow), bifid left fourth rib (double thin white arrows); (b) plain radiograph 
of upper thoracic spine, anteroposterior view, showing partial fusion of first to fifth thoracic vertebrae (black stars are on 
first and fifth thoracic vertebrae) with scoliosis having convexity to left side (curved line drawn along left border of vertebral 
column), bifid anterior end of second rib ( double thin white arrows) and splayed posterior aspect of second rib (thick white 
arrow); (c) plain radiograph of lower thoracic spine, anteroposterior view, showing bifid anterior end of right sixth rib. 
 
Figure III a to c; contrast CT craniofacial region (A) Coronal view of contrast CT showing falx calcification (arrow); (B) 
Coronal view of contrast CT showing lytic expansile lesion with a solid enhancing portion (black arrow) in left maxilla; the 
soft tissue lesion has breached the maxillary wall inferolaterally (single thin white arrow) and remodelled and uplifted the 
floor of the maxillary sinus (double thin white arrows); (C) axial section, bone window settings of CT scan, showing three 
expansile lytic lesions, one each in both mandibular rami and one in left maxilla (black arrows); there is no calcification 
within these lesions. 
Mukul et al                                Gorlin Goltz Syndrome 
Vol 6| Issue 2| Apr – Jun 2017                                                                          J Orofac Res 16 
 
Figure 4 - Fibro collagenous tissue with moderate chronic inflammatory infiltrate and lined focally by stratified squamous 
epithelium. The luminal epithelial cells are para keratinized and produce an uneven corrugated surface. Figure 5a & 5b - 
Multiple palmer and plantar pits. Figure 6 - Frontal bossing  
Orthopantomograph finding revealed radiolucent areas 
with sclerotic border bilaterally in angle and body of 
mandible and left side maxilla. All radiolucent lesions 
were multilocular (Fig. 1). X-ray chest revealed bifid left 
fourth rib (Fig. 2a), partial fusion of first to fifth thoracic 
vertebrae with scoliosis having convexity to left side, bifid 
anterior end of second rib and splayed posterior aspect of 
the second rib (Fig. 2b), bifid anterior end of right sixth rib 
(Fig. 2c). CT scan findings revealed calcification of the 
falx cerebri (Fig. 3a), and lytic expansile lesion in the left 
maxilla (Fig. 3b). Three expansile lesions in the both 
mandibular Rami and one in left maxilla (Fig. 3c) were 
also seen. A provisional diagnosis of GGS was made. 
Biopsy was performed and histopathological 
examination revealed fibro collagenous tissue with 
moderate chronic inflammatory infiltrate lined focally by 
stratified squamous epithelium. Trabeculae of osteoid 
tissue were also present. The luminal epithelial cells were 
para keratinized and produced an uneven corrugated 
surface suggestive of odontogenic keratocyst (Fig. 4). An 
evaluation by dermatology was done, it revealed various 
classical signs, which included multiple palmer (Fig. 5a) 
and plantar pits (Fig. 5b). Frontal bossing was also an 
important diagnostic feature in our patient (Fig. 6). 
The parents of the patient underwent radiological 
evaluation; neither of them showed any features of the 
Gorlin Goltz syndrome. In our patient the diagnosis of the 
Gorlin Goltz syndrome was confirmed by the presence of 
three major criteria (viz., multiple odontogenic 
keratocysts, calcified falx cerebri and bifid rib) and three 
minor criteria (viz., hypertelorism, Palmar/plantar pits, 
frontal bossing). 
The surgical procedure was as follows: Under General 
Anesthesia, two cysts from mandibular & one cyst for left 
maxilla were enucleated and affected teeth associated with 
lesion were removed. Peripheral osteotomy was performed 
with surgical bur followed by application of cornoy’s 
solution for 5 minutes in each cavity. Chemical 
cauterization and electro cauterization were done at sites 
where there was bone breach and the lesion extended up to 
the adjoining soft tissue. Hemostasis was achieved & 
primary closure done. The content of the cavity was sent 
for histopathological examination into three specimen 
samples. The patient is under surveillance of the disease 
and monitoring occurrence of any new lesion. Follow up 
clinically for one year is complete. 
DISCUSSION 
Diagnostic criteria, based on the most frequent and/or 
specific features of the syndrome, were defined by Evans 
et al. in the Journal of Medical Genetics in 1993, and 
modified by Kimonis et al. in 1997 [9] (Table 1.) 
Syndromes vary among individuals within the family as 
depending upon manifestation and severity of the 
phenotype. Molecular testing may be considered for 
confirmation by individuals with typical findings [10]. 
Molecular genetic testing for mutation in PTCH gene is 
unable to detect mutation in all affected individuals, So 
clinical examination and radiographic investigations 
remains the diagnostic standard for GGS. Comparison 
between syndromic and non-syndromic keratocysts have 
shown that keratocyst in GGS are normally multiple and 
have increased number of satellite cysts and solid island of 
epithelial proliferation. GGS Keratocyst are frequently 
parakeratinised [11]. Palmer and Plantar pits develop in 
the second decade of life and increase in number with age. 
Mukul et al                                Gorlin Goltz Syndrome 
Vol 6| Issue 2| Apr – Jun 2017                                                                          J Orofac Res 17 
Current diagnostic criteria for GGS includes Clinical, 
histologic and family history and the treatment of the 
syndrome is the specific therapeutics for the clinical 
manifestations.OKC are the most consistent and 
representative sign of GGS in the first and second decade 
of life. The diagnostic criteria are based on clinical 
evidence, radiographic manifestation, and histological 
examination because molecular genetic testing for 
mutations in PATCH gene is unable to detect the mutation 
in all affected individuals [12]. 
The recurrent jaw cyst is the main oral sign, being 
present in 90% of patient [13]. Keratocysts appear in the 
tooth bearing area of the jaws, and believed to arise from 
the dental lamina [14]. Most non –NBCCS Keratocysts are 
isolated lesions, but in NBCCS the keratocysts are 
commonly multiple, from 1to30, and the average number 
is 5. In NBCCS patients, there is continued development 
of new and recurring cysts until about age 30, when the 
rate of development tends to decrease. The most common 
site in the mandible is a molar ramus region (44%) 
followed by incisor canine region (18%). In contrast, the 
majority of maxillary cyst occurs in incisor- canine (15%) 
and molar tuberosity (13%). The most common symptoms 
presented by half of the patients are swelling, a quarter 
with mild pain. During the past years, advancement has 
been taking place in the knowledge of the genetic 
characteristic of the syndrome, existing clinic pathologic 
variations and its different manifestations. A two hit model 
[15] for developmental defects in Gorlin Syndrome. 1) The 
syndrome associated OKC, presumably must have 
originated from precursor cell containing the hereditary 
(1
st
 Hit). 2) Additional somatic mutation or loss of 
heterozygosity, epigenetic silence of the other allele may 
act as a second hit, which can make PTCH inactive. The 2 
hit is necessary for various tumors, hamartomas like BCC, 
OKCs, meningioma and ovarian fibromas. But, other 
lesions, for example, palmar pits require 1 hit. Preliminary 
diagnosis and treatment of the Gorlin Goltz syndrome, as 
well as family screening for the syndrome and genetic 
counselling are essential, as it may be associated with 10% 
of the patients with aggressive basal cell carcinoma and 
malignant neoplasia. High concentration of melanocytes 
has been associated with a decreased chance of (BCC) 
basal cell carcinoma proliferation owing to protect from 
UV radiation. Lack of BCC may further delay diagnosis of 
early GGS without affording protection from syndromes 
other manifestations. 
Among skeletal manifestation mean height of the 
subject is found to be increased (183 cm in males 174 cm 
in female) and about 15% of patients are extremely tall 
[16] About 70% of affected individuals have eyes which 
appear wider apart due to abnormal growth of the skull. 
Other skeletal signs are scoliosis (40%) and abnormalities 
are such as bifid, wide, fused, partially missing ribs under 
developed ribs (30-60%) [13]. Other developmental 
defects proved to be prominent features of GGS include 
pits of palm and soles, [30-65%] by the age of 10 years 
and percentage rising to 80% by the age of 15 [17]. These 
can be considered a very useful diagnostic trait of GGS as 
pointed out by Kimonis et al and also present in our case. 
In CT scan Ectopic calcification of central nervous 
system have been reported: lamellar calcification of the 
falx cerebri (70-85%) [13], the calcification of the falx 
cerebi can appear very early in life, and is often strikingly 
apparent from late childhood. Other features detected are 
cyst of choroid plexus of the third and lateral ventricles of 
the brain, agenesis of corpus callosum [18], meningioma, 
medulloblastoma [19]. Precise differential diagnosis needs 
exclusion of some rare dermatological syndrome, such as 
Bazex syndrome (characterized by basal-cell carcinoma 
associated with hyportrichosis, hypohidrosis, milia and 
folliculare atro-phodermia), trichoepithelioma papulosum 
multiplex (named also epithelioma adenoids cysticum), or 
Torre's syndrome (Muir-Torre's syndrome). One of the 
most problematic aspects is 60% rate of recurrence 
following surgery. This may be due to incomplete removal 
of the cyst that is from retention of epithelial island and/or 
satellite micro cysts, which occur with great frequency in 
the connective tissue capsule, or from the proliferation of 
the basal layer of epithelium. Several specialists are 
required to treat various manifestations of the disease. The 
acceptable surgical treatment modalities for OKC are: 1. 
Decompression & marsupialization. 2. Enucleation with & 
without adjuncts. 3. Enucleation & treatment of bony 
defect with cornoy’s solution. 4. Enucleation and liquid 
nitrogen cryotherapy. 5. Block resection with or without 
preservation of continuity of jaw. 
The choice of treatment should be based on multiple 
factors; patient age, size and location of the cyst, soft 
tissue involvement, history of previous treatment and 
histological variant of the lesion. The goal is to choose the 
treatment modality that causes the lowest risk of 
recurrence and the least morbidity.There have been reports 
of ameloblastoma arising in odontogenic keratocyst  or 
Mukul et al                                Gorlin Goltz Syndrome 
Vol 6| Issue 2| Apr – Jun 2017                                                                          J Orofac Res 18 
rarely squamous cell carcinoma. Tollers suggested that the 
OKC may be regarded as a benign neoplasm rather than a 
conventional cyst based on its clinical behaviour .WHO 
reclassify the lesion based on its behaviour, histopathology 
and genetics. 
CONCLUSION 
The presence of multiple odontogenic keratocyst should 
alert clinician to suspect GGZ and look into other features 
of the Gorlin Goltz syndrome. It is advisable to carry out 
all radiographic investigations to confirm the syndrome to 
make diagnosis at an early stage of life and make early 
diagnosis of associated neoplasia. If once, detected close 
relatives should be carefully examined for possible 
hereditary risks of the condition and subjected to genetic 
counseling. 
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Conflict of interest: None stated, Funding: Nil 
 
How to cite this article: Mukul SK, Kumar A, Mokhtar 
EA, Pandey S. Gorlin Goltz Syndrome: A Case Report 
and Discussion on Diagnosis and surgical management. J 
Orofac Res. 2017; 6(2): 14-18. 
 
 


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