Gorlin-Goltz syndrome, also known as the basal cell naevus syndrome, is a rare phakomatosis characterised by multiple odontogenic keratocysts (KOT), multiple . Gorlin and Goltz’s eponymous syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an autosomal dominant disorder. The Gorlin-Goltz syndrome (GGS) (the nevoid basal cell carcinoma syndrome— NBCCS) is a rare autosomal dominant syndrome caused due.
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Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, syndrmoe ectopic calcifications of the falx cerebri, and facial dysmorphism. Pathogenesis of the syndrome is attributed to abnormalities in the long arm of chromosome 9 q Diagnosis is based upon established major and minor clinical and radiological criteria and ideally confirmed by deoxyribo syndrom acid analysis.
We report a case of a 9-year-old girl presenting with three major and one minor feature of Gorlin-Goltz syndrome. Radiologic findings of the syndrome are easily identifiable on Orthopantomogram, chest X-ray, and Computed tomography scans. These investigations prompt an early verification of the disease, which is very important to prevent recurrence and better survival rates from the coexistent diseases.
Gorlin-Goltz syndrome which is also known as nevoid basal cell carcinoma BCC Syndrome is a rare autosomal dominant disorder with strong penetrance and extremely variable expressivity.
It was reported by Jarish and White in Gorlin and Robort W. Goltz described the distinct syndrome, consisting of multiple nevoid BCCs, jaw cysts, and bifid ribs. A case of Gorlin-Goltz syndrome is presented here in which the abovementioned findings are evident. On an average, the incidence of Gorlin-Goltz syndrome has been reported to be 1 in 50, toin general population.
To establish diagnosis, two major and one minor or one major and three minor criteria are necessary. Small cysts can be enucleated, whereas large cysts can be marsupialized. Because of aggressive nature and high rate of recurrence, there should be periodic follow-up at regular intervals of 6 months till 5 years, followed by once annually for the entire life.
Case Reports in Dentistry
A 9-year-old girl presented to the Department of Oral Medicine and Radiology in Vasantdada Patil Dental College and Hospital, Sangli, with complaint of swelling in the upper anterior region of right side of jaw since the last six months.
Swelling had been increasing since the last 3 horlin 4 months and there was no pain associated with it. Lateral photograph shows the increased occipitofrontal circumference. Orthopantomogram OPG was advised which revealed multiple round to oval radiolucencies which were suggestive of multiple cystic syndrkme [ Figure 2 ]. The erupting left and right second molar tooth also had a cyst-like radiolucency over the crown. Thus, seven cystic lesions three in maxilla and four in mandible were seen on OPG.
Due to the presence of multiple cyst-like syndroje in the jaws, Gorlin-Goltz syndrome was suspected and further investigations were carried horlin. An X-ray of the skull revealed calcification of falx cerebri [ Figure 3 ] and a chest X-ray showed fused ribs [ Figure 4 ]. Other findings included frontal bossing. No skin lesion in the form of basal cell nevus, palmar or plantar pits, or keratosis were present.
All the cystic lesions of the jaw were enucleated surgically. The histopathologic examination of enucleated tissue was done. The cystic lining was made up of uniformly thick, stratified squamous epithelium of 5 to 6 layers thick, flat with corrugated parakeratin surface.
The basal cell layer was cuboidal to columnar with well-polarized nuclei. Underlying connective tissue capsule was loose fibrocellular, with supporting vasculature, extravasated blood elements, strands, and nests of odontogenic epithelium [Figures 7 a — c ].
In all seven cysts, histopathologic features were suggestive of OKC [ Figure 7 ]. In our patient, the diagnosis of Gorlin-Goltz syndrome was established by the presence of three major criteria multiple OKC, bifid ribs, and calcifications of falx cerebri and one minor criterion Figure 1c showing increased occipitofrontal circumference.
In order to make a diagnosis of the Gorlin-Goltz syndrome, some diagnostic criteria have to be taken into account. The more relevant are the following: In certain occasions, a tall height and even similar characteristics to acromegaly have been associated with the syndrome.
The presence of two major and one minor or one major and three minor criteria are necessary to establish diagnosis. Gorlin-Goltz syndrome is an autosomal dominant disorder with a high penetrance and variable expressivity. It is caused by mutations in the patched tumor suppressor gene PTCHa human homologue of the Drosophila gene mapped to chromosome 9q Chromosomal mapping and genetic studies suggest that the underlying basis for this disease is an abnormality in the Hedgehog Hh signaling pathway.
The role of this pathway in embryogenesis is well known. The PTCH gene product is part of a receptor for the protein called Sonic Hedgehog, which is involved in embryonic development. More recent investigations reveal the role of the Hh pathway in cell cycle regulation in adults.
In the Drosophila model, the primary receptor for the Hh signaling pathway has two transmembrane protein components: Patched Ptc and Smoothened Smo. In the absence of Hh protein, the Ptc protein inhibits the Smo. Under normal conditions, Hh, when present, binds Ptc, releasing Smo to affect downstream events such as cell growth and differentiation. Based on this model, inactivation of Ptc or constitutive activity of Smo or Hh could lead to overactivity of Smo, resulting in neoplasm formation.
In syndromic cases, more commonly maxillary molar area is affected. 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.
In his study, all odontogenic cysts have shown positive immunoreactions for the heparanase for the heparin protein in various intensities. 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.
Gorlin-Goltz syndrome is a well-known Autosomal Dominant disorder. The incidence reported worldwide ranges from 1 in 50, to 1 inNot many cases have been reported in India, and hence we report here a rare case and importance of multidisciplinary approach in management of the syndrome.
Thorough extraoral and intraoral examinations along with OPG, skull and chest radiographs help in proper diagnosis of the condition.
Nevoid basal-cell carcinoma syndrome
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.
National Center for Biotechnology InformationU. Dent Res J Isfahan. Author information Article notes Copyright and License information Disclaimer. Received Apr; Accepted Jul. This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3. This article has been cited by other articles in PMC.
Abstract Gorlin-Goltz syndrome is an uncommon autosomal dominant inherited disorder, which is characterized by multiple odontogenic Keratocysts and basal cell carcinomas, skeletal, dental, ophthalmic, and neurological abnormalities, intracranial ectopic calcifications of the falx cerebri, and facial dysmorphism.
Calcification of falx cerebri, fused ribs, Gorlin-Goltz syndrome, odontogenic keratocyst. Open in a separate window. Clinical photographs a, b and c and Intraoral Photograph d of patient.
OPG showing multiple cystic lesions, three in maxilla and four in mandible.
Minor criteria Macrocephaly adjusted for height. Cleft lip or cleft palate, frontal bossing, coarse face moderate or severe hypertelorism. Sprengel deformity, marked pectus deformity, marked syndactyly of the digits. Bulging of sella turcica, vertebral anomalies such as hemi gorkin, fusion or elongation of vertebral bodies, modeling defects of the hands and feet, or flame-shaped hands or feet.
Footnotes Source of Support: Nil, Conflict of Interest: J Oral Maxillofac Pathol.
Incidental finding on routine CT scan following car accident. Acta Dermatovenerol Alp Panonica Adriat. Complications of the naevoid sydrome cell carcinoma syndrome: Results of a population based study. Multiple odontogenic keratocysts associated with Gorlin-Goltz syndrome.
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Jaw cyst-basal nevus syndrome- Bifid Rib syndrome: The odontogenic keratocyst and its occurrence in the nevoid basal cell carcinoma syndrome. Analysis of the neoplastic nature and biological potential of sporadic and nevoid basal cell carcinoma syndrome-associated keratocystic odontogenic tumor.