Imaging Sci Dent.  2012 Mar;42(1):55-60. 10.5624/isd.2012.42.1.55.

Radiological features of familial Gorlin-Goltz syndrome

• Hegde S
• Shetty SR

• KMID: 1974408
• DOI: http://doi.org/10.5624/isd.2012.42.1.55

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.

Keyword

Basal Cell Nevus Syndrome; Odontogenic Cysts; Skeletal Anomalies

MeSH Terms

Adult
Basal Cell Nevus Syndrome
Carcinoma, Basal Cell
Child
Dentists
Early Diagnosis
Humans
Male
Nuclear Family
Odontogenic Cysts
Odontogenic Tumors

Figure

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  Fig. 1 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.

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  Fig. 2 Panoramic radiograph shows multiple unilocular radiolucencies in mandibular body, ramus, and symphysis region and a smaller unilocular radiolucency in the right maxillary tuberosity area.

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  Fig. 3 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.

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  Fig. 4 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.

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  Fig. 5 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) .

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  Fig. 6 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.

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  Fig. 7 Photomicrograph shows the parakeratinized, corrugated, 6-8 layers thick epithelium with palisaded, polarized basal cell layer (H&E stain, ×100).

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  Fig. 8 Pedigree chart of the affected family shows the mode of inheritance of Gorlin-Goltz syndrome.

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