ABSTRACT
INTRODUCTION: Cleidocranial Dysplasia (CCD) is a rare inherited autosomal dominant congenital syndrome that occurs in approximately one out of every one million individuals worldwide; it primarily affects bones that undergo intra-membranous ossification, generally the skull and clavicles. Other bones may be affected such as the long bones, spine, pelvis, bones of hands and feet showing hypoplasia of distal phalanges. Indispensable is the role of the gene Runx2, necessary for the differentiation of odontoblasts and osteoblasts; it regulates the expression of many genes related to the development of dental hard tissues. The aim of this study was to appraise the connection between the Cleidocranial Dysplasia and the appearance of skeletal and dental anomalies not much deepen to this day. With particular emphasis, it wants to describe the multidisciplinary therapeutic approach. CASE REPORT: The patient showed multiple skeletal features of CCD. A distinctive feature was the failed or delayed exfoliation of deciduous dentition and a delayed eruption of permanent teeth. The goal of the treatment is the improvement of both aesthetic and functional aspects. This objective can be achieved through an appropriate multidisciplinary treatment plan that arranges the orthodontic and surgical measures. RESULTS AND DISCUSSIONS: Because of the involvement of facial bones, the altered mode of tooth eruption and the presence of numerous included supernumerary teeth, CCD is a pathology that all dentists should be familiar with. The patients have small faces compared to the skull and the hypoplasia of maxillary, tear, nasal and zygomatic bones. The orthodontic approach in literature seems to be reduced to the guided eruption of bad-positioned and impacted teeth. Knowledge of the clinical features of CCD allows for the early planning of the procedures necessary to resolve the dental pathologies observed in CCD patients.
ABSTRACT
BACKGROUND: Traditional treatment for uveal melanoma is the enucleation of the eye with outcomes cosmetically unacceptable and loss of useful vision. Plaque brachytherapy, compared to enucleation, had the advantage to preserve the eye with outcomes cosmetically acceptable and preservation of vision. PATIENTS AND METHODS: From July 1990 to December 2009 one hundred forty-two (142) patients (51 males and 91 females) with small to medium uveal melanoma were treated with 106Ru plaque brachytherapy. The patients underwent a complete staging before brachytherapy with indirect ophthalmoscopy and ultrasounds. Mean tumour thickness was 3.26 mm (1.6-6 mm). The dose scheduled was 80-100 Gy to the apex with a maximum dose of 800 Gy to the sclera. RESULTS: One hundred forty-two have been treated, nine patients had lost the follow-up and drop out; 133 patients were assessed. Mean follow-up was 7.7 years (6 months-18 years). The overall survival at 5, 10 and 15 years was 92%, 85% and 78% respectively. Cancer fee survival was 95%, 90% and 83%, respectively at 5, 10 and 15 year. Radiation-induced toxicity was represented in 47 patients with a 5 year actuarial survival rate free from complications of 54%. CONCLUSIONS: 106Ru plaque brachytherapy is a valid approach for treatment of uveal melanoma. This technique is efficacy and safe, with a low toxicity profile.
