Gorlin Syndrome : Review of the Neuroradiological and Maxillofacial Features

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Learning objectives
The aim of this paper is to introduce the Gorlin Syndrome and introducing diagnostic methods.
Criteria for diagnosis, treatment and prognosis of the disease.
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Background
The syndrome was first reported in 1894 by Jarisch and White (1,2) , and elineated by Gorlin and Goltz in 1960. (3)(6)(7) There is no sexual predilection, with a male-to-female ratio of 1:1.The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is a hereditary condition caused by mutations in the PTCH1 gene and is transmitted in an autosomal-dominant manner with high penetrance and variable expressivity.(8,9)   Individuals with no known affected family members may comprise up to 60% of all affected individuals. (10)The syndrome is due to a mutation of the tumor suppressor Patched gene located in the 9q22.1-q31chromosome (11)(12)(13) and is characterized by multiple defects involving the skin, nervous system, eyes, endocrine system, and bones.Skin disorders are not fast-spreading, they are relatively easy to cure, but if not cured they provoke serious lesions of surrounding soft tissue structures and bones.There is a 60% rate of recurrence in patients with basal cell nevus syndrome (BCNS) (14) .Cysts most frequently occur in the molarramus region of the mandible, but they may also occur in the maxilla.
Diagnostic criteria were defined by Evans, and modified by Kimonis (16) on 5 major and over 100 minor criteria.The syndrome is diagnosed with two major or one major and two minor criteria (Evans & Kimonis 1997).

Minor criteria
Macrocephaly, determined after adjustment for height; cleft lip or palate, frontal bossing; "coarse face"; moderate of severe hypertelorism; other skeletal abnormalities: sprengel deformity; marked pectus deformity, marked syndactyly of the digits; radiological abnormalities: bridging of the sella turcica; vertebral anomalies such as hemivertebrae, fusion or elongation of the vertebral bodies; modeling defects of the hands and feet, or flame-shaped lucencies of the hands or feet; ovarian fibroma; medulloblastoma. (2,3)

Case report
A female patient aged 49, without family history of disease.In last ten years, she has been operated of odontogenic keratinocysts in the right body of mandible, thus showing lack of tissue in this area on X ray imaging and wearing artificial teeth.During the period of ten years prior final diagnosis, she had eight surgical interventions of BCC on face and chest.Dull frontal headaches started during this period, and computed tomography showed bilateral bilamellar calcification of the falx cerebri (Figure 1).At the time of diagnosis, she had two BCC on the face and four on her back.She had multiple palmar and planar pits (Figure 2) and anomalies of the ribs (bifid ribs) (Figure 3).Among skeletal abnormalities spectrum excavatum and kifoscoliosis (Figure 4) have been observed as well as and facial dysmorphism (ocular hypertelorism, flat and wide nose in root, temporal change, facial and eye lid changes, lower lip changes, nasal change, mandibular bone defect on right (Figure 5).Thus, she fulfilled five major and three minor criteria (according to Kimonis et al. (16) for clinical diagnosis of Gorlin syndrome.

Prognosis
The nevoid basal cell carcinoma syndrome is usually not life-threatening.These patients should not be exposed to X-rays or to the sun.Chemoprevention may be used to avoid skin lesions.Vitamin A analogs, such as retinoids, including isotretinoin, may prevent or slow the delevopment of new basal cell carcinomas.(19-23) Medulloblastoma may be a potential cause of early death, even if NBCCS patients may have better outcome than patients with sporadic medulloblastoma.

Conclusion
In summary, it can be said that Gorlin-Goltz syndrome is a dominant autosomal genetic process, which is of particular interest to the oral and maxillofacial health experts.Proper evaluation and characterization of the clinical features are of utmost importance for a correct diagnosis and treatment of affected patients.In order to be able to establish early diagnosis of NBCCS, specialists should carry out clinical and imaging examinations in early ages of life.Physicians and dentists must know the features of the syndrome well.