This document discusses Gorlin Goltz Syndrome, a rare genetic condition caused by mutations in the PTCH1 gene. It presents three key points: 1. Gorlin Goltz Syndrome is characterized by multiple basal cell carcinomas, odontogenic keratocysts of the jaws, and other abnormalities like skeletal anomalies and ovarian fibromas. It has an autosomal dominant inheritance pattern. 2. The case presentation describes a 32-year-old female patient found to have multiple recurrent odontogenic keratocysts in the mandible and maxilla, leading to a diagnosis of Gorlin Goltz Syndrome based on major and minor diagnostic criteria. 3. Management of odontogenic kerat

1. Gorlin Goltz Syndrome
A rare case presentation.
By.Dr.Anushan Madushanka..BDS, MD/OMFS,
MFDRCSI..
Senior Registrar in OMF surgery
North Colombo Teaching Hospital, Sri Lanka

2. Introduction
Common Synonyms-
• Nevoid basal cell carcinoma syndrome (NBCCS)
• Gorlin syndrome
• Gorlin-Goltz syndrome
• Basal cell nevus syndrome, BCNS
• Fifth phacomatosis

3. Epidemiology, Etiology & Pathogenesis
• Prevalence- 1:56 000 to 1:256 000
• Male:Female- 1:1
• Age- Second to Third decade even in first decade.
• Occurs due to mutation in PTCH- 1 gene located
in long arm of chromosome- 9
• Hereditary condition.
• Transmitted by autosomal dominant manner.
• High penetrance & variable expressivity.
• No sexual prediliction.

4. Pathogenesis
Function of PTCH- 1 products.
• Act as tumor suppressor molecule.
• Act as cell membrane receptor of 2nd messenger
system.
• Inhibits formation of TGF-beta.
• Embryonic processes such as-
1.differentiation of sub population of cells.
2.formation of neural tube.
the limb bud,
parts of the brain,
hair follicle development,
tooth development.***
• Act as cell-cycle regulator.

5. Clinical Features
B’cos of PTCH -1 gene mutation, pts get multiple system
deformities.
1. Skin- multiple BCC
2. Stomatologic system- Multiple OKC
3. central nervous system and other brain signs-
Calcification of falx cerebri.
4. Skeletal system- Fused vertebrae,bifid ribs
5. Ocular system- Hypertelorism,Exopthalmous
6.Genito urinary system- Ovarian cysts & fibroma
7.Mesentric cysts- Lymphatic cysts
8.Cardio vascular system- Fibroma of Heart
9.Other tumours- medulloblastoma, fibroma and
rhabdomyosarcoma

6. Diagnosis
• Diagnosis of NBCCS
**TWO major Criteria or
**ONE majour criteria + more than TWO
Minor criteria
Major criteria
• 1. Multiple (>2) BCCs or one under 20 years
• 2. Odontogenic keratocysts of the jaws proven by
histopathology
• 3. Palmar or plantar pits (3 or more)
• 4. Bilamellar calcification of the falx cerebri
• 5. Bifid, fused or markedly splayed ribs
• 6. First degree relatives with NBCCS

7. Minor criteria
• 1. Macrocephaly determined after adjustment for height
• 2. Congenital malformation: cleft lip or palate, frontal
bossing, "coarse face", moderate to 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, modeling
defects of the hands and feet, or flame-shaped lucencies
of the hands or feet
• 5. Ovarian fibroma
• 6. Medulloblastoma.

8. • Other methods of Diagnosis
Antenatal diagnosis-
-By USS
-By analysis of fetal DNA- Amneocentesis
- Chorionic villus
Sampling
• Definitive Diagnosis-
-By Gene mutation analysis.

9. • Csae Presentation
A 32 Year old FM
C/O- Recurrence of swelling after 3-4 years in
previous operated area L/S/ lower Jaw.
H/C/O- Painless,No discharges, Numbness L/S L- lip
P/M/H- NAD
O/E-
Generally healthy pt.
No signs of Anaemia,Cyanosis,Jaundice.

10. Extra Oral Ex-
• Swelling in L/S body & angle of the mandible.
• Bony hard, oval, well demarcated, Non tender,
7cm by 5cm in size.
• Numbness in L/S lower lip.
• No palpable lymph nodes in H/N area.
Intra Oral Ex-
• Missing L/L 5,6,7 due to previous surgery.
• Edentulous area is fluctuant.
• No intra oral discharges.

11. Investigations.
1. L/S lateral oblique view of mandible –
5 cm size multi locular radiolucency
in body of mandible
well corticated margins
2. Incision Bx/LA- Recurence of KOT.
3. CT scan of mandible & maxilla-
Cystic lesion L/S mandibular body & angle.
Bath maxillary antrum filled with
homogenous materials with impacted two
teeth.

14. Investigation Cont.
4. Maxillary antral biopsy via Cud Well Luc-
Report - KOT in both maxillary antrum.

15. Conclusion - Multiple OKC/KOT.
***Gorlin Goltz Syndrome ?.
Furthur Ex –
• Multiple basal cell carcinomas = Mj
• Odontogenic keratocysts –OKC = Mj
• Palmar an planter pits/keratosis = Mj
• Farther is affected = Mj
• Typical facial features of Frontal bossing =Mn
• Ocular hypertelorism = Mn

20. • Management of Gorlin Goltz Syndrome.
Multidisciplinary approach is important.
1. OMF surgeon.
2. Oncologist/Oncosurgeon.
3. Dermatologist.
4. Endocrinologist.
5. Pathologist
Role of OMF surgeon in management of
Gorlin Goltz syndrome.
1. Management of multiple OKC.
2. Appropriate referral to other specialists.

21. Management of OKC/KOT.
Treatment options
1. Simple enucleation
2. Radical enucleation- What is this?
3. Mandible- 1. Marginal resection +/- bone graft
2. Segmental resection + Bone graft
3. Hemimandibulectomy + BG
4. Maxilla- Maxillectomy

22. *What are the factors that should consider
before selecting a treatment option.
• Size
Small = <3cm , large = 3-6cm, giant = >6cm
• Site-
Maxilla – orbit, nasal cavity, pterigoid ,sinuses
Mandible – body, ramus, condyl, coronoid
• Radiographic appearance -
*S- unilocular,* L- unilocular, *Multi-locular,
*Extension to adjacent areas
• Age
• Understanding the behavior of the tumor

23. Treatment.
1. Small = Radical Enucleation + Iry closure
2. Large = Radical Enucleation + packing with
cancellous bone chips – iliac crest BG
3. Giant =
Excision
Marginal resection +/- BG
Segmental resection + BG
Hemimandubulectomy + BG

24. • Radical enucleation.
1. Careful Removal of entire cyst lining – pref.
one piece
2. Removalof overlying mucosa +/- teeth
3. Extensive burring of the cavity to 3mm depth
4. Reduction of cortical plates – to remove
residual epthelium
5. Destruction of residual cyst lining
1. Freezing
2. Fixing with Carnoy’s solution

25. *Carnoy’s solution
Combination of 4 solutions
1.Absolute Alcohol
2.Chloraform
3.Glacial acetic acid
4.Ferric chloride
*Act as tissue fixator, therefore cyst lining can be
removed without breaking.
*Denatures the cystic tissues upto 3mm of bone
depth.

26. Challenging Problems.
1. Tendency to recur- recurence rate 5 - 62 %
• 1.Daughter cysts
• 2.Microcysts
• 3.Epithelial islands
- Can be found in the wall of OKC
• 4.Epithelial “offshoots” of basal layers of OE
• 5.Prolifrating dental lamina
• 6.Developing satellite cysts
2. Identify the nature of the behaviour.
• Some = simple cysts
• Some = locally aggressive – rate = 2%-62%
• Some = tumour like growth

27. Thank You