RESUMEN
Radiation therapy (RT) is a component of the treatment of patients with head and neck malignancies. This therapy may damage the nearby carotid arteries, thereby initiating or accelerating the atherosclerotic process (atheroma formation). Dentists treating patients who have been irradiated should examine the patient's panoramic radiograph for evidence of atheroma-like calcifications, which appear 1.5 to 2.5 cm posterior and inferior to the angle of the mandible. Patients with evidence of such lesions should be referred to their primary care physician with the suggestion that an ultrasound examination of the carotid arteries is indicated.
Asunto(s)
Aterosclerosis/etiología , Carcinoma de Células Escamosas/radioterapia , Enfermedades de las Arterias Carótidas/etiología , Neoplasias Laríngeas/radioterapia , Traumatismos por Radiación/etiología , Anciano , Aterosclerosis/diagnóstico por imagen , Calcinosis/diagnóstico por imagen , Calcinosis/etiología , Enfermedades de las Arterias Carótidas/diagnóstico por imagen , Arteria Carótida Interna/diagnóstico por imagen , Arteria Carótida Interna/efectos de la radiación , Estenosis Carotídea/diagnóstico por imagen , Epiglotis/efectos de la radiación , Humanos , Masculino , Traumatismos por Radiación/diagnóstico por imagen , Radiografía Panorámica , Ultrasonografía DopplerRESUMEN
Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant disorder characterized by florid osseous dysplasia of the jaws, bone fragility, and diaphyseal cortical thickening and bowing of long bones. We present a family with previously undiagnosed GDD. The disorder was identified by the characteristic gnathic and skeletal manifestations in the father. Clinical and radiologic examination of the patient's son also revealed the characteristic features of GDD. Gene sequencing revealed a novel mutation (c. 1067 G>A, p. Cys356 Tyr) in the ANO5 gene, which is causative for GDD. This mutation was predicted to be detrimental by computational analyses and by structural modeling of the protein. The implications for recognition and management of this disease are discussed.