A 14-year-old Turkish female patient was referred to our clinics because of multiple odontogenic keratocysts revealed by panoramic X-ray at the School of Dentistry, Istanbul, Turkey. She was the second child born to a consanguineous couple. Following an uneventful pregnancy, she was born via spontaneous vaginal delivery. No problems were encountered during the postnatal adaptation period and her psychosocial motor development was normal. She had a whole set of deciduous teeth replaced by an extra whole set of deciduous teeth between the ages of seven and 10. After 10 years of age, her permanent teeth began to erupt and were noted to be ‘structurally imperfect and some on top of the others’ by the mother. She developed an abscess in the left maxillary region at the age of 11. Dental examination revealed multiple odontogenic cysts. Cyst enucleation was performed and orthodontic treatment was initiated.

 

Figure 1. Note the palmar pits on the right hand (shown by the black arrows).

 

 

Figure 2. Note the basal cell nevi in the periorbital region.

 

Physical examination at the age of 14 revealed macrocephaly (59.5 cm, >97 centile) with frontal bossing, telecanthus, broad nasal root, tubular nose, high-arched palate and mild prognathism. Ten palmar pits were observed on the left and four on the right hand (Figure 1). One plantar pit was found on the left foot. Multiple basal cell nevi were located on the periorbital region, neck, pectoral region and on the back (Figure 2). Systemic examination was unremarkable. The presence of multiple basal cell nevi, odontogenic keratocysts, palmar pits and a characteristic facies, three major and one minor criteria, led to the diagnosis of GS.

Neither her parents nor her brother showed any clinical manifestations of the disease. Renal ultrasonography showed normal results. No structural abnormalities were reported in ophtalmology consultation. The nevi were excised and the histopathology report was compatible with early stage basal cell carcinoma.