Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations.

X-linked hypophosphatemia (XLH) is the most common monogenic disorder causing hypophosphatemia. This case-note review documents the clinical features and the complications of treatment in 59 adults (19 male, 40 female) with XLH. XLH is associated with a large number of private mutations; 37 different mutations in the PHEX gene were identified in this cohort, 14 of which have not been previously reported. Orthopaedic involvement requiring surgical intervention (osteotomy) was frequent. Joint replacement and decompressive laminectomy were observed in those older than 40 years. Dental disease (63%), nephrocalcinosis (42%), and hearing impairment (14%) were also common. The rarity of the disease and the large number of variants make it difficult to discern specific genotype-phenotype relationships. A new treatment, an anti-FGF23 antibody, that may affect the natural history of the disease is currently being investigated in clinical trials.

Management of a Severe Cervicofacial Odontogenic Infection.

INTRODUCTION: Odontogenic infections originate from a tooth or from its supporting structures, generally secondary to a pulp necrosis, periodontal disease, pericoronitis, apical lesions, or complications of dental procedures, which can be restricted to the alveolus or can reach the jaws and face through maxillofacial spaces. These are the most common conditions which affect the head and neck regions. AIM: The aim of this study is to report a severe case of a cervicofacial odontogenic infection while discussing the most relevant aspects. CASE REPORT: A 47-year-old female patient with a background of diabetes mellitus (DM) had a cervicofacial infection presenting edema and erythema in the left hemiface extending from the frontoparietal to cervical region and was submitted to extensive surgical treatment combined with antibiotic therapy. CONCLUSION: Although the prevalence and complication rates of odontogenic infections had decreased with the advancement of diagnostic techniques, availability of effective antibiotics, and improvement in oral hygiene, still there are conditions that require attention and accurate treatment to prevent the progression of the pathology to deeper fascial spaces. CLINICAL SIGNIFICANCE: Odontogenic infections can be treated with fewer complications if approached earlier when diagnosed while their premature clinical manifestations. However, if the treatment is postponed and the infection spreads into deeper fascial spaces, it can damage vital structures, and, consequently, threaten the patient's life. In these cases, extensive and aggressive therapy should be performed.