Radiological features of familial Gorlin-Goltz syndrome
Identifieur interne : 001C79 ( Pmc/Curation ); précédent : 001C78; suivant : 001C80Radiological features of familial Gorlin-Goltz syndrome
Auteurs : Shruthi Hegde [Inde] ; Shishir Ram Shetty [Inde]Source :
- Imaging Science in Dentistry [ 2233-7822 ] ; 2012.
Abstract
Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.
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DOI: 10.5624/isd.2012.42.1.55
PubMed: 22474649
PubMed Central: 3314839
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<author><name sortKey="Hegde, Shruthi" sort="Hegde, Shruthi" uniqKey="Hegde S" first="Shruthi" last="Hegde">Shruthi Hegde</name>
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<author><name sortKey="Shetty, Shishir Ram" sort="Shetty, Shishir Ram" uniqKey="Shetty S" first="Shishir Ram" last="Shetty">Shishir Ram Shetty</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Radiological features of familial Gorlin-Goltz syndrome</title>
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<front><div type="abstract" xml:lang="en"><p>Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.</p>
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<pmc article-type="case-report"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Imaging Sci Dent</journal-id>
<journal-id journal-id-type="iso-abbrev">Imaging Sci Dent</journal-id>
<journal-id journal-id-type="publisher-id">ISD</journal-id>
<journal-title-group><journal-title>Imaging Science in Dentistry</journal-title>
</journal-title-group>
<issn pub-type="ppub">2233-7822</issn>
<issn pub-type="epub">2233-7830</issn>
<publisher><publisher-name>Korean Academy of Oral and Maxillofacial Radiology</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">22474649</article-id>
<article-id pub-id-type="pmc">3314839</article-id>
<article-id pub-id-type="doi">10.5624/isd.2012.42.1.55</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject>
</subj-group>
</article-categories>
<title-group><article-title>Radiological features of familial Gorlin-Goltz syndrome</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Hegde</surname>
<given-names>Shruthi</given-names>
</name>
<xref ref-type="aff" rid="A1"></xref>
</contrib>
<contrib contrib-type="author"><name><surname>Shetty</surname>
<given-names>Shishir Ram</given-names>
</name>
<xref ref-type="aff" rid="A1"></xref>
</contrib>
</contrib-group>
<aff id="A1">Department of Oral Medicine and Radiology, AB Shetty Memorial Institute of Dental Sciences, Nitte University, Mangalore, India.</aff>
<author-notes><corresp>Correspondence to: Dr. Shruthi Hegde. Department of Oral Medicine and Radiology, AB Shetty Memorial Institute of Dental Sciences, Nitte University, Deralakatte, Mangalore 575018, Karnataka, India. Tel) 91-990-1321299, Fax) 91-824-2204776, <email>drshruthihegde@yahoo.co.in</email>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><month>3</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="epub"><day>22</day>
<month>3</month>
<year>2012</year>
</pub-date>
<volume>42</volume>
<issue>1</issue>
<fpage>55</fpage>
<lpage>60</lpage>
<history><date date-type="received"><day>19</day>
<month>10</month>
<year>2011</year>
</date>
<date date-type="rev-recd"><day>02</day>
<month>12</month>
<year>2011</year>
</date>
<date date-type="accepted"><day>21</day>
<month>1</month>
<year>2012</year>
</date>
</history>
<permissions><copyright-statement>Copyright © 2012 by Korean Academy of Oral and Maxillofacial Radiology</copyright-statement>
<copyright-year>2012</copyright-year>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc/3.0"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc/3.0">http://creativecommons.org/licenses/by-nc/3.0</ext-link>
) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p>
</license>
</permissions>
<abstract><p>Gorlin-Goltz syndrome is an autosomal dominant disorder principally characterized by cutaneous basal cell carcinomas, multiple keratocystic odontogenic tumors, and skeletal anomalies. This syndrome may be diagnosed early by dentist because keratocystic odontogenic tumors are usually one of the first manifestations of the syndrome. Early diagnosis and treatment are of utmost importance in reducing the severity of long term sequelae of this syndrome. This report presents a rare event of Gorlin-Goltz syndrome occurring in a 39-year-old male and his 8-year-old daughter. The clinical and investigative features of this familial disorder has been described in detail.</p>
</abstract>
<kwd-group><kwd>Basal Cell Nevus Syndrome</kwd>
<kwd>Odontogenic Cysts</kwd>
<kwd>Skeletal Anomalies</kwd>
</kwd-group>
</article-meta>
</front>
<floats-group><fig id="F1" position="float"><label>Fig. 1</label>
<caption><p>A. Photograph shows increased inner canthal distance. B. Cystic swelling on the left eyelid is seen. C. Cystic swelling in the midline of the neck is seen.</p>
</caption>
<graphic xlink:href="isd-42-55-g001"></graphic>
</fig>
<fig id="F2" position="float"><label>Fig. 2</label>
<caption><p>Panoramic radiograph shows multiple unilocular radiolucencies in mandibular body, ramus, and symphysis region and a smaller unilocular radiolucency in the right maxillary tuberosity area.</p>
</caption>
<graphic xlink:href="isd-42-55-g002"></graphic>
</fig>
<fig id="F3" position="float"><label>Fig. 3</label>
<caption><p>A. The mandibular occlusal cross sectional radiograph shows a radiolucent area with minimum cortical plate expansion. B. The chest radiograph shows bifid fourth and eighth rib on the right side.</p>
</caption>
<graphic xlink:href="isd-42-55-g003"></graphic>
</fig>
<fig id="F4" position="float"><label>Fig. 4</label>
<caption><p>A. Axial CT image shows hypodense areas in relation to the right mandibular body separated by hyperdense septae. B. Coronal CT image shows the lesion involving the right half of maxilla including maxillary sinus. C. Axial CT image shows calcification of falx cerebri.</p>
</caption>
<graphic xlink:href="isd-42-55-g004"></graphic>
</fig>
<fig id="F5" position="float"><label>Fig. 5</label>
<caption><p>Photomicrographs show the parakeratinized, corrugated, 6-10 layers thick epithelium with palisaded, polarized basal cell layer. Also, daughter cysts in connective tissue suggestive of an keratocystic odontogenic tumor is observed (H&E stain, A. ×40, B. ×100) .</p>
</caption>
<graphic xlink:href="isd-42-55-g005"></graphic>
</fig>
<fig id="F6" position="float"><label>Fig. 6</label>
<caption><p>A. The daughter's photograph reveals hypertelorism. B. Her panoramic radiograph shows well defined radiolucency in the mandibular symphysis region with displacement of the erupting canine.</p>
</caption>
<graphic xlink:href="isd-42-55-g006"></graphic>
</fig>
<fig id="F7" position="float"><label>Fig. 7</label>
<caption><p>Photomicrograph shows the parakeratinized, corrugated, 6-8 layers thick epithelium with palisaded, polarized basal cell layer (H&E stain, ×100).</p>
</caption>
<graphic xlink:href="isd-42-55-g007"></graphic>
</fig>
<fig id="F8" position="float"><label>Fig. 8</label>
<caption><p>Pedigree chart of the affected family shows the mode of inheritance of Gorlin-Goltz syndrome.</p>
</caption>
<graphic xlink:href="isd-42-55-g008"></graphic>
</fig>
<table-wrap id="T1" position="float"><label>Table 1</label>
<caption><p>Most common clinical features of the Gorlin-Goltz syndrome<xref ref-type="bibr" rid="B1">1</xref>
,<xref ref-type="bibr" rid="B11">11</xref>
</p>
</caption>
<graphic xlink:href="isd-42-55-i001"></graphic>
</table-wrap>
</floats-group>
</pmc>
</record>
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