He had undergone a number of surgical procedures to remove skin lesions, that were probably cancerous, and jaw cysts, but it was not possible to gather precise information on the procedures or the histology of the removed lesions. Physical examination revealed selleck sequelae of a right mandibulectomy (resection of the ramus mandibulae and condylectomy, reconstruction with the iliac crest) with evident facial disfigurement, numerous surgical scars, hypertelorism and mild lagophthalmos bilaterally with epiphora and lack of lower eyelashes (Fig. 1). There was also a skin lesion of the left auricle, suspected to be basal cell carcinoma. Neurological examination confirmed dysethesia of the left side of the face in the area of the trigeminal innervation. Fig. 1 Patient in frontal vision. Orthopantamogram (Fig.

2) and facial CT scan (Fig. 3) bolstered the suspected diagnosis of NBCCS. In fact, in addition to the sequelae of the previous surgical procedures, instrumental investigations also revealed some cystic formations in the sinus cavities, leading to thinning of the contiguous walls of the orbital, maxillae and nasal cavities, while a satellite cyst in the angle of the left mandible had caused initial osteolytic lesions of the contiguous cortical bone. There were also calcifications of the cerebri falx. Fig. 2 Orthopantogram of the patient. Fig. 3 Facial CT scan (coronal projection) of the patient. The patient underwent surgery to enucleate the satellite cyst and remove the auricular skin growth.

Histological examination of the cyst suggested a benign lesion surrounded by squamous epithelial cells (odontogenetic or mandibular keratocyst, a so-called primordial cyst), while the auricular growth was diagnosed as basal cell carcinoma. The patient was then discharged and recommended to undergo intensive clinical and instrumental follow-up and to avoid prolonged unprotected exposure to sunlight. Finally, we invited the patient��s two children to undergo focused diagnostic testing. The significance of the blood relationship between the patient��s parents (who are cousins) is unknown. The son, who reported having undergone orchidopexy in early infancy, underwent orthopantogram and CT scanning of the dental arches, which revealed mild hypertelorism and, above all, jaw cysts (Figs. 4, ,5).5). Genetic analysis confirmed the specific mutation and thus the diagnosis of NBCCS.

Given the absence at that time of any signs or symptoms attributable to the syndrome, it was decided not to perform surgery for the jaw cysts. Instead, the son was recommended to go for intensive clinical and instrumental Entinostat monitoring and to avoid unprotected exposure to sunlight. In contrast, the daughter showed no signs of the syndrome and genetic testing was negative. Fig. 4 Orthopantogram of the patient��s son. Fig. 5 CT scan of the dental arches of the patient��s son.