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Year : 2003  |  Volume : 13  |  Issue : 1  |  Page : 19-22
Gorlin's syndrome - radiographic and CT manifestations


Department of Radiodiagnosis and Imaging, B.J. Medical College and Sassoon General Hospital, Pune-411001, India

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Keywords: Odontogenic keratocysts, Falcine calcification, Hemivertebrae, Bifid ribs

How to cite this article:
Gandage S G, Rahalkar M, Domkundwar S. Gorlin's syndrome - radiographic and CT manifestations. Indian J Radiol Imaging 2003;13:19-22

How to cite this URL:
Gandage S G, Rahalkar M, Domkundwar S. Gorlin's syndrome - radiographic and CT manifestations. Indian J Radiol Imaging [serial online] 2003 [cited 2019 Dec 6];13:19-22. Available from: http://www.ijri.org/text.asp?2003/13/1/19/28618

   Introduction Top


Several reports have appeared in the literature describing a rare syndrome variously called as Gorlin's syndrome, Gorlin-Goltz syndrome, basal cell nevus syndrome, basal cell carcinoma syndrome and nevoid basal cell carcinoma syndrome.

This syndrome was first described by Jarish and White in 1894 and was first reported by Brinkley and Johnson in 1951. This syndrome is characterized by multiple basal cell carcinomas, jaw cysts and a number of systemic and skeletal abnormalities.

We would like to report one such case of Gorlin's syndrome. The purpose of this study was to present CT features in addition to the radiographic findings.


   Case report Top


A 30 year old woman presented with pain and swelling of the right jaw since two years and of the left jaw since one year. General and systemic examination revealed no significant findings. The patient's younger sister also had jaw cysts for which she had been operated.

Plain radiographs of the mandible showed expansile, lytic lesions causing displacement of teeth involving the body of the mandible on both sides [Figure - 1]. CT of the mandible revealed expansile cystic lesions involving the body of the mandible on both sides, the left ramus of the mandible and the left maxilla, which were diagnosed as dentigerous cysts [Figure - 2]. These cysts were uniloculated with thinning and erosion of their walls lined by a hyperdense membrane and contained soft tissue density material and teeth [Figure - 3]. Dense calcification was noted in the falx cerebri on the CT sections [Figure - 4]. The chest radiograph showed that the 1st to 4th ribs were bilaterally bifid and malformed [Figure - 5]. Radiographs of the cervical and thoracic spine showed hemivertebra at T1 with partial fusion at C6-C7 and T2-T3 levels, with scoliosis of the upper thoracic spine [Figure - 6]. The lateral skull radiograph revealed bridging of the sella [Figure - 7]. Abdomino-pelvic USG was normal.

Enucleation and subsequent histopathological examination of one of the mandibular cysts confirmed that these were odontogenic keratocysts.


   Discussion Top


Gorlin's syndrome is transmitted as an autosomal dominant syndrome having high penetrance but with variable expressivity, such that not all findings are present in each patient [1]. This disorder is known to run in families, with an equal frequency in both sexes. This syndrome is thought to be commoner than previously suspected.

Multiple odontogenic keratocysts, arising from the rests of dental lamina of the mandible and occasionally the maxilla are common in this disorder, with a peak incidence in the second and third decade of life. These are unilocular

or multilocular, lined by stratified squamous epithelium and may contain displaced teeth. These cysts may be complicated by the development of pathological fractures, ameloblastomas and squamous cell carcinomas, and have a high rate of recurrence [2],[3]. CT enables the detection of small cysts not evident on radiographs; erosion of the cyst walls; displacement and resorption of adjacent teeth and can better define the extent of these cysts and their complications.

An important clinical finding of this syndrome is the presence of multiple basal cell carcinomas, predominantly involving the face and trunk with an early age of appearance. However, about 10% of patients above the age of 30 may show no basal cell carcinomas [4]. It has also been reported that black persons have a decreased tendency to develop basal cell carcinomas as compared to fair skinned persons, probably due to increased pigmentation of their skin [5]. Other skin lesions include palmer or planter pits, milia, comedones, sebaceous or epithelial cysts and dyskeratosis.

Rib anomalies include splaying, synostosis, and bifid and cervical ribs. Unilateral or bilateral alterations in 1st to 4th ribs are most typical. Vertebral anomalies consist of block vertebrae, hemivertebrae, synotosis, 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 have also been reported.

In the skull there is early onset of calcification of the falx cerebri, tentorium cerebelli, dura and choroids. Bridging of the sella turcica due to calcification of the diaphragma sellae is seen in 60-80% of patients [4]. Neurologic abnormalities include agenesis of the corpus callosum, congenital hydrocephalus, mental retardation, medulloblastomas and meningiomas. Ophthalmologic abnormalities seen are dystopia canthorum, internal strabismus, congenital blindness and hypertelorism.

Abnormalities of the reproductive system are ovarian and uterine fibromas in females, and cryptorchidism and hypogonadism in males. Miscellaneous abnormalities reported are lymphatic mesenteric cysts, minor kidney abnormalities, cardiac fibromas and a tendency to develop various other neoplastic lesions such as melanomas, neurofibromas, rhabdomyosarcomas and leiomyomas.

The major diagnostic criteria include multiple basal cell carcinomas, odontogenic keratocysts, palma or planter pits, falcine calcification and a positive family history. The minor criteria are congenital skeletal anomalies (i.e. ribs, vertebral), macrocrania, cardiac or ovarian fibromas, medulloblastoma, lymphomesentric cysts, and congenital malformations (i.e. cleft lip/palate, polydactyly, eye anomalies). The presence of 2 major or 1major and 2 minor criteria is diagnostic for Gorlin's syndrome [6],[7]. Our patient had 2 major (odontogenic keratocysts, falcine calcification) and 1 minor criteria (skeletal anomalies).

The importance of recognition of this syndrome is because of its malignant potential. The fact that its transmission is autosomal dominant with good penetrance implies the need of genetic counseling. This syndrome has a number of skeletal and systemic radiological manifestations, which should alert the radiologist and can aid in the diagnosis of this syndrome.

 
   References Top

1.Dunnick NR, Head GL, Peck GL, Yoder FW. Nevoid basal cell carcinoma syndrome: Radiographic manifestations including cyst like lesions of the phalanges. Radiology 1978; 127: 331-334.   Back to cited text no. 1  [PUBMED]  
2.Weber AL. Imaging of cysts and odontogenic tumors of the jaw. Radiol Clin North Am 1993; 31(1): 101-120.  Back to cited text no. 2    
3.Rater CJ, Selke AC, Van Epps EB. Basal cell nevus syndrome. Am J Roentgenol 1968; 103: 589-594.   Back to cited text no. 3    
4.Gorlin RJ. Nevoid basal cell carcinoma syndrome. Medicine 1987; 66: 98-113.  Back to cited text no. 4  [PUBMED]  
5.Goldstein A M, Paskatia B, DiGiovanna JJ, Poliak S, Santucci S, Kase R. Clinical findings of two African-American families with nevoid basal cell carcinoma syndrome. Am J Med Genet 1994; 50: 272-281.  Back to cited text no. 5    
6.Hall J, Johnston KA, McPhillips JP, Barnes SD, Elston DM. Nevoid basal cell carcinoma syndrome in a black child. J Am Acad Dermat 1998; 38: 363-365.  Back to cited text no. 6    
7.Ratcliffe J, Shanley S, Ferguson J, Chenevix-Trench G. The diagnostic implication of falcine calcification on plain skull radiographs of patients with basal cell nevus syndrome and the incidence of falcine calcification in their relatives and two control groups. Br J Radiology 1996; 68: 361-368.  Back to cited text no. 7    

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Correspondence Address:
S G Gandage
Department of Radiodiagnosis and Imaging, B.J. Medical College and Sassoon General Hospital, Pune-411001
India
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Source of Support: None, Conflict of Interest: None


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    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7]

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    Introduction
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