Basal Cell Nevus Syndrome
Synonym / Acronym
Nevoid basal cell carcinoma syndrome, Multiple Basal Cell Carcinoma Syndrome, Gorlin syndrome, or Gorlin-Goltz Syndrome
Definition
It is an inherited autosomal trait expressed variably between individuals. It is characterized by a group of defects like multiple basal cell nevoid carcinoma of skin, multiple KCOT, skeletal, nervous system, endocrine glands, and eye abnormalities.
Clinical Features
Basal cell nevus syndrome occurs as multiple KCOTs in multiple quadrants. The age ranges from 5 to 30 years old. KCOTs have higher recurrence rate than the solitary type. Skin lesions can occur anywhere but they are commonly found on the face, neck and trunk as brown or flesh colors papules. The hallmark of this disorder is the appearance of a type of skin cancer known as basal cell carcinoma at or about puberty. The most common skeletal defects are bifid ribs. Other anomalies can be presented like mild prognathism, bossing of temporal and temporoparietal bones, shortening of metacarpals, and vertebral fusion.
Radiographic Features
Basal cell nevus syndrome looks very similar to solitary KCOT in terms of location and radiographic appearance. The lesions can range from 1 mm to several centimeters.
Differential Diagnosis
Cherubism appears as multiple bilateral lesions but with significant expansion which is not in favor with characteristics of basal cell nevus syndrome. Patients with multiple dentigerous cysts may look similar to basal cell nevus syndrome. However, dentigerous cysts cause expansion as well.
Treatment
The keratocysts are enucleated but they have a high rate of recurrence. Patient yearly screening is important for to detect any new and recurrent cysts. A panoramic film is a good screen tool. The severity of basal cell nevus carcinoma determines the prognosis of most patients. Some can be aggressive and can cause. Genetic counseling is recommended.
Case Reports
HISTORY: A 59-year-old male was referred for a Cone Beam CT evaluation of pathology in the mandibular ramus, body region, right & left condyle, and symphasis affecting the left side. When the patient arrived in radiology room he was in a lot of pain and was irritated with some problems associated with the hospital pharmacy. The patient was somewhat agitated and was anxious to go home. Because of these conditions, he moved during the CT scan. This movement resulted in less than optimum scans causing a blurred appearance throughout the images. Normally, the images would need to be retaken but with the patient’s condition at the time retaking would not have been any better.
FINDINGS: There are signs of motion artifacts as result from patient movement during the scan. There are multiple well-defined multilocular radiolucent lesions affecting multiple quadrants of both jaws. The largest lesion involves the left side of the mandible starting from the mandibular symphasis and extends to the sigmoid notch affecting the base of the condylar head and the whole coronoid process. There is extensive expansion and thinning of cortical boundaries. Perforation is possible though it may not be visible on the CBCT scan. There is another lesion affecting the right anterior mandible. The lesion starts from the mandibular symphasis to the right lower first premolar. Another lesion can be seen in the left side of the maxilla. The lesion extends from tooth #12 (cross-section ’8′) to the posterior wall of the maxilla. The lesion fills about half of the left maxillary sinus.
IMPRESSION: Multiple KCOT(s) that correlates with patient history of basal cell nevus syndrome
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HISTORY: A 14-year-old female was referred for a Cone Beam CT evaluation to document pathological changes in the maxilla and mandible due to Basal Cell Nevus Syndrome. The images were reconstructed using InVivoDental software.
FINDINGS: There are multiple well-defined radiolucent lesions. The lesions affect multiple quadrants of both jaws. The first lesion is located in the right maxillary sinus. The lesion is filling up most of the sinus cavity and has caused displacement of #2. There is a root remnant of tooth #1. The axial slice shows displacement of the posterior and lateral walls of the right sinus representing expansion. There appears to be a lesion in the left maxillary sinus as well but it doesn’t seem to fill as much of the sinus as the contralateral lesion. There is evidence of the previous surgery which removed five keratocystic odontogenic tumors (KCOT) lesions. A portion of the inferior lateral border of the left sinus is missing. A metallic object is located adjacent to the missing cortical bone. This is presumably related to the previous surgery.
There are two additional lesions associated with developing #17 and #32. There seems to be association between the crowns of displaced molars and the lesion at the level of CEJ.
IMPRESSION: Multiple cysts affecting multiple quadrants associated with basal cell nevus syndrome. The cysts are most likely KCOT but two or more could possibly be dentigerous cysts especially those associated with crowns of mandibular molars.
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HISTORY: A 26-year-old male was referred for a Cone Beam CT evaluation of the posterior left mandible for recurrence of keratocystic odontogenic tumor.
FINDINGS: There is a well-defined radiolucent lesion located in the left posterior mandible in the anterior region of the ramus area. The lesion extends from mesial aspect of root apex of tooth #19 posteriorly and ascending the ramus area to the level of the sigmoid notch. There is noticeable expansion. The cortical borders appear to be lobulated and are thinned. There is inferior displacement of the mandibular canal and extensive resorption of teeth #18 and #19. There is a small mixed density located in the center of the lesion suggesting a remnant of tooth #17.
Additionally, there is a small radiolucent lesion in the left maxilla in the area of teeth #11 and #12 with a possible communication through the palatal cortex. These signs could indicate a previous surgery in the area.
IMPRESSION: The findings of multiple KCOT lesions are consistent with the patient history of basal cell nevus syndrome.