Gorlin-Goltz Syndrome

December 4, 2013

Case History: A 32-year-old patient presented for CT scan of the face with history of a painless swelling over the left cheek for four months.

Case History: A 32-year-old patient presented for CT scan of the face with history of a painless swelling over the left cheek for four months.

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Figure 1: CT coronal reformat in bone window shows a lytic expansile cystic lesion in the left mandibular ramus and body region.

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Figure 2: CT coronal reformat in bone window shows a lytic expansile cystic lesion in the left maxillary alveolus at the level of first molar tooth.

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Figure 3: CT coronal reformat in bone window shows another small cystic lesion in the left maxillary alveolus anteriorly.

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Figure 4: Axial CT section in brain window shows multiple dural calcifications in the bilateral tentorium cerebelli, anterior and posterior interhemispheric fissure.

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Figure 5: Axial CT section in brain window shows multiple dural calcifications in interhemispheric fissure at a higher level.

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Figure 6: Coronal T2 weighted MRI brain section shows lesion in the ramus of left hemi mandible with central T2 hypointense region and peripheral T2 hyperintensity.

Diagnosis: Gorlin-Goltz syndrome

Discussion: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease with autosomal dominant trait, complete penetrance and variable expressivity [1].

The pathogenesis of Gorlin-Goltz syndrome is attributed to abnormalities linked to the long arm of chromosome 9 (q22.3-q31). It has been reported that loss of human patched gene (PTCH1 gene), which is a tumor suppressor gene, could be the molecular origin of the syndrome [1].

The estimated prevalence varies from 1/57,000 to 1/256,000 among various studies, with a male-to-female ratio of 1:1[2].

Cutaneous, skeletal, ophthalmological, neurological and reproductive systems are commonly affected in this syndrome.

Multiple keratocysts of the jaws are the earliest and most frequently identified abnormality.

Multiple OKCs in a young patient should raise the possibility of basal cell nevus syndrome (Gorlin-Goltz syndrome).

Evans et al first established major and minor criteria for diagnosis of this rare entity, later modified by Kimonis et al [3]. Although these criteria are not absolute, they can help guiding the clinician's laboratory evaluation for both diagnostic purposes and routine follow up.

Major criteria consist of:
I. More than two basal cell carcinomas or one in patient < 20 years old
II. Odontogenic keratocysts of the jaw
III. Three or more palmar or plantar pits
IV. Bilamellar calcifications of falx cerebri and tentorium
V. Bifid or fused, or markedly splayed ribs
VI. First-degree relative with Gorlin-Goltz syndrome

Minor criteria consist of:
I. Macrocephaly,
II. Congenital anomalies (cleft lip or palate, frontal bossing, coarse facies, and moderate or severe hypertelorism)
III. Other skeletal anomalies (Sprengel deformity, marked pectus deformity, and marked syndactyly of the digits)
IV. Radiologic anomalies (such as bridging of the sella turcica, vertebral anomalies, modelling defects of the hands and feet, or flame-shaped lucencies of the hands and the feet V. Ovarian fibroma or myeloblastoma.

Two major criteria or 1 major and 2 minor criteria are obligatory in order to diagnose Gorlin-Goltz syndrome. Various neoplasms like medulloblastomas, meningiomas, ovarian and cardiac fibromas have been also reported.

In our case, two major criteria (odontogenic keratocysts of the jaw and calcification of falx-cerebri and tentorium) and one minor (history of surgery for cleft palate) were present.

The radiologists play an important role in the diagnosis of this rare entity, because several major and minor criteria are detected only after a radiological exam.

High suspicion is essential when odontogenic keratocysts or calcifications of falx cerebri and tentorium, especially in young patients are detected. These easily detectable abnormalities in CT scans, should prompt further chromosomal diagnostic work-up to confirm the diagnosis.

In the case of GGS it is important to make an early diagnosis as these patients show increased propensity to multiple malignant neoplasms and are also sensitive to ionizing radiation including UV radiation [2].

Early recognition of the disease, a detailed family history and a thorough evaluation of signs and symptoms are the cornerstones for an appropriate management [4]. Because of the different systems affected and the diversity in clinical picture, once diagnosis is established, a multidisciplinary approach team of various specialists is required for a successful treatment.

References:
1. Padma Pandeshwar, K. Jayanthi, and D. Mahesh, “Gorlin-Goltz Syndrome,” Case Reports in Dentistry, vol. 2012, Article ID 247239, 4 pages, 2012. doi:10.1155/2012/247239
2. Lo Muzio L: Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis 2008, 25(3):32.
3. Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B: Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med 2004, 6(6):495-502.
4. Kalogeropoulou C, Zampakis P, Kazantzi S, Kraniotis P, Mastronikolis NS. Gorlin-Goltz syndrome: incidental finding on routine ct scan following car accident. Cases J. 2009 Nov 25;2:9087. doi: 10.1186/1757-1626-2-9087. PubMed PMID: 20062724; PubMed Central PMCID: PMC2803884.

Venkatraman Indiran
Associate professor
Department of Radio diagnosis
Sree Balaji Medical College and Hospital
Chennai, Tamilnadu
India