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(Biocompatibilidad del titanio en los tejidos orales: una revisión sistemática)
Resumen
Este síndrome se asocia a mutaciones en el gen CDC73, que codifica la proteína supresora de tumores parafibromina. Los pacientes suelen presentar síntomas al final de la adolescencia o al principio de la edad adulta, incluyendo hinchazón mandibular, hipercalcemia y complicaciones renales. El diagnóstico precoz es crucial para un tratamiento y una vigilancia eficaces, ya que el síndrome conlleva un riesgo significativo de malignidad. Este síndrome es clínica y genéticamente diferente de otros síndromes de neoplasia endocrina y parece estar causado por mutaciones en un gen asociado con tumores endocrinos, conocido como "HRPT2". Este artículo destaca las características clínicas, la base genética, los criterios diagnósticos y las estrategias de tratamiento para el HPT-JT, y enfatiza la importancia del asesoramiento genético y el seguimiento regular de las personas afectadas y sus familias. Buscamos concienciar a los profesionales de la salud sobre este diagnóstico diferencial, poco frecuente pero significativo, mediante un informe de caso detallado y una revisión exhaustiva de la literatura.
Received: 22 January 2025.
Accepted: 20 March 2025.
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