Bilateral hyperplasia of the mandibular coronoid processes in patients with nevoid basal cell carcinoma syndrome: An undescribed sign

Nevoid basal cell carcinoma (Gorlin) syndrome

“…The mandibular coronoid processes are enlarged. 27 One of the most striking features of the disorder is the lamellar calcification of the falx, which is found in 55% to 95% of the population as opposed to perhaps 5% in the general population. One can also see calcification of the tentorium cerebelli in 20% to 40%, of the petroclinoid ligament in 20%, and of the diaphragma sellae in 60% to 80%.…”

Gorlin syndrome and bilateral ovarian fibroma

“…2,11,16,18 The etiopathogenesis of this disease remains unclear; however, mutation of the PTCH tumor-suppressing gene located on the long arm of chromosome 9 is believed to be responsible for the development of multiple malformations and for the variety of manifestations. 1,5,6,10,11,15,18,23 The major issue in Gorlin syndrome is the difficulty in recognizing the condition at an early stage, since many of the clinical signs are absent in childhood and due to the variability in its phenotypic expression, there is no single component that is present in all patients. 1 The principal clinical characteristics consist of basal cell carcinomas (BCC), odontogenic keratocysts and palmoplantar pits.…”

“…2,3,10,11 Recently, some studies have associated this syndrome with a mutation in the patched (PTCH) gene, a tumor suppressor gene situated on the long arm of chromosome 9 (9q22.3-q31). 3,5,7,10,23 Prevalence is estimated at 1/57,000 to 1/256,000 of the population and there is no difference between genders. It may affect any ethnic group; however, the majority of reports refer to Caucasians.…”

“…1,2 In 1960, Gorlin and Goltz defined the triad composed of multiple basal cell carcinomas, odontogenic cysts and the presence of skeletal abnormalities as constituting part of this syndrome. [1][2][3][4][5][6] In 1997, Kimonis proposed certain criteria on the basis of which a diagnosis of Gorlin syndrome could be made (Table 1). 2,16,22 Gorlin syndrome is a rare hereditary, autosomal-dominant disease 7,9,23 with high penetrance and varying phenotypic expression, affecting various systems.…”

Nevoid Basal Cell Carcinoma Syndrome

“…10Y13 The best-known orofacial manifestations of NBBCs are frontal and biparietal bossing, increased occipitofrontal circumference, mild mandibular prognathism, 14,15 mandibular coronoid processes hyperplasia. 16 Surprisingly, any detailed study on craniofacial cephalometric measurements in NBCCS patients has been published. In fact, previous investigations in NBCCS patients on lateral and frontal radiographs have described mostly ectopic calcification of the skulls.…”