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Case Report
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
Goltz syndrome (GGS) especially in young patients without any skin lesions. A 21 year old
male reported to our department, with swelling in the lower posterior region of the right
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
keratosis were present. All the cystic lesions of the jaws were enucleated surgically and
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
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
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,
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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
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
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3.
3.1.
Major criteria
Discussion
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
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4.
Conclusion
Conflict of interest
All authors have none to declare.
references
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6.
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9.
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