OBJECTIVE: To present the case of a 46-year-old woman with basal cell carcinoma, odontogenic cysts, brain anomalies and skeletal abnormalities.
METHODS:
Design: Case Report
Setting: Tertiary National University Hospital
Patient: One
RESULTS: A 46-year-old woman consulted for a non-healing, necrotic left orbital ulcer that started as a skin-colored, papilla-like lesion on the upper eyelid. There were also hyperpigmented lesions with ill-defined borders over both paranasal areas. Tissue biopsies revealed basal cell carcinoma. Radiologic imaging showed cystic lesions in the mandible, straightening of cervical vertebrae and calcifications of the falx cerebri, tentorium cerebelli, pineal gland and choroid plexus. Based on established major and minor clinical and radiologic criteria, we arrived at a diagnosis of Gorlin Goltz Syndrome or Nevoid Basal Cell Carcinoma Syndrome (NBCCS). She underwent wide excision of the left orbital mass with exenteration, excision of left and right paranasal masses, left total parotidectomy with facial nerve preservation, enucleation of mandibular cyst and cervicofacial reconstruction with skin grafts of the left orbital area and ala.
CONCLUSIONS: NBCCS is a rare autosomal dominant disorder with a high tendency for neoplasms and developmental anomalies. Diagnosis can easily be missed if the physician is unaware of its classic but bizarre presentation. Early recognition and prompt specialist referral is very important in order to prevent complications and provide better prognosis. Patients should be reminded of the importance of follow-up as other presentations of the syndrome may manifest later in life and family genetic screening and counseling should be undertaken.

Human ; Female ; Middle Aged ; Basal Cell Nevus Syndrome ; Choroid Plexus ; Pineal Gland ; Facial Nerve ; Ulcer ; Carcinoma, Basal Cell ; Odontogenic Cysts ; Mandible ; Cervical Vertebrae ; Prefrontal Cortex

RATIONALE: Bone tumors of the head and neck region are rare. Their occurrence, biologic behavior, and management can cause significant personal, social, behavioral and economic ramifications. The aim of this study was to describe the clinicopathologic profile of patients with maxillofacial tumors in a tertiary level government hospital. METHODS: This was a retrospective, descriptive study over a five-year period (January 2013 to December 2018). RESULTS: A total of 256 patients was included in the study, with females accounting for 53.5% and males for 46.5%. The mean age of presentation was 37.4 years with a range of 18-80 years. The mean age of patients with benign tumors was 36.1 years, while those with malignant tumors was higher at 61.8 years. Majority of the tumors involved the mandible. Ameloblastoma and dentigerous cysts were the most prevalent benign odontogenic tumors while squamous cell cancer was the most common malignancy. Radical surgery with composite reconstruction was done in malignant cases to ensure adequate pathologic margins, while a more conservative tissue-sparing approach was done for benign cases. CONCLUSION Management of maxillofacial tumors remains a challenge because of its relative anatomic location and locally-advanced state upon detection. Identifying these tumors at an early stage ensures adequate resection with minimal functional and aesthetic loss. The low morbidity and mortality rates reported in this study emphasizes the role of the multidisciplinary team approach, surgical experience and comprehensive perioperative care in the management of bone tumors in the head and neck.