IS Case 208: Gorlin Syndrome with multiple odontogenic keratocysts

Wade Hedegard, MD


Imaging Sciences URMC 2008
Publication Date: 2009-05-22

History

An 18-year-old male presented with recurrent jaw pain and a history of multiple basal cell carcinomas.

Findings

Plain radiographs of the face and mandible show multiple expansile, lytic lesions containing "floating teeth" arising from the mandible bilaterally. CT of the face reveals multiple expansile cystic lesions involving the mandible and maxillary regions bilaterally. The lesions are uniloculated with thin walls and contain soft tissue density material and impacted teeth. The largest lesion in the left posterior maxillary region extends into and fills nearly the entire right maxillary sinus. This expansile cyst has broken through the lateral wall of the maxillary sinus and also contains an impacted tooth. Additionally, dense calcification is noted in the dura and falx cerebri.

Diagnosis

Gorlin Syndrome with multiple odontogenic keratocysts

Discussion

Gorlin syndrome or basal cell nevus syndrome is an autosomal dominant condition with high penetrance but variable expressivity. The syndrome is characterized by multiple abnormalities including basal cell carcinomas, jaw cysts and systemic and skeletal abnormalities. The condition is named after famed University of Minnesota geneticist and oral pathologist Robert Gorlin.

The diagnosis of Gorlin syndrome is made when there are two major criteria or one major and one minor criteria present. The major diagnostic criteria include multiple basal cell carcinomas, odontogenic keratocysts, palmar or plantar pits, falcine/dural calcification and a positive family history. The minor criteria include congenital rib or vertebral anomalies, macrocrania, cardiac or ovarian fibromas, medulloblastoma, lymphomesentric cysts, polydactyly and congenital lip/palate/eye malformations.

Odontogenic keratocysts arise from dental lamina rests of the mandible or maxilla. They are benign but are locally aggressive, grow rapidly and are difficult to remove. They occur equally in males and females and have a peak incidence in the second and third decade of life. Of patients with odontogenic keratocysts, 5% have basal cell nevus syndrome.The cysts have a thin epithelium and contain foul-smelling cheese-like degenerating keratin. Radiological follow-up is essential due to the locally destructive nature and high rate of recurrence. Enucleation with peripheral ostectomy and/or cryosurgery are the most common forms of treatment.

Gorlin syndrome is a congenital condition with a wide range of potential abnormalities. An important clinical finding of this syndrome is the presence of multiple basal cell carcinomas occurring at an early age, predominantly involving the face and trunk. Other skin lesions include palmar or plantar pits, milia, comedones, sebaceous or epithelial cysts and dyskeratosis. Rib anomalies include splaying, synostosis, and bifid or cervical ribs. Vertebral anomalies consist of block vertebrae, hemivertebrae, synostosis, spina bifida occulta, and kyphoscoliosis. Shortening of the 4th metacarpal and small flame shaped lucent areas in the phalanges and tubular bones of the arms also occur. Early skull calcifications involving the falx cerebri, tentorium cerebelli, dura and choroids occurs. There may be agenesis of the corpus callosum, congenital hydrocephalus, mental retardation, medulloblastomas and meningiomas. Ovarian and uterine fibromas may occur in females and cryptorchidism or hypogonadism may occur in males with Gorlin syndrome.

References

  1. Dunnick NR, Head GL, Peck GL, Yoder FW. Nevoid basal cell carcinoma syndrome: radiographic manifestations including cystlike lesions of the phalanges. Radiology. 1978 May;127(2):331-4. [PMID: 644054]
  2. Weber AL. Imaging of cysts and odontogenic tumors of the jaw. Definition and classification. Radiol Clin North Am. 1993 Jan;31(1):101-20. [PMID: 8419968 ]
  3. Gorlin RJ. Nevoid basal cell carcinoma syndrome. Medicine (Baltimore). 1987 Mar;66(2):98-113. [PMID: 3547011}
  4. Hoyle J. Dr. Robert J. Gorlin, world-renowned oral pathologist, dies at 83. J Am Dent Assoc. 2006 Oct;137(10):1372-3. [PMID: 17012713]

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