Una presentación atípica de sialolitiasis en la glándula submandibular en paciente con síndrome de Gorlin Goltz: reporte de caso
An atypical presentation of sialolithiasis in the submandibular gland in patient with Gorlin Goltz syndrome: case report
DOI:
https://doi.org/10.56712/latam.v6i2.3626Palabras clave:
síndrome de Gorlin-Goltz queratoquiste odontogénico, carcinoma basocelular, sialolitiasisResumen
El síndrome de Gorlin-Goltz (SCBCN) es un trastorno hereditario raro caracterizado por múltiples carcinomas basocelulares y queratoquistes odontogénicos (QO), asociado a mutaciones en el gen PTCH1. Aunque las manifestaciones clínicas son bien conocidas, la presencia de sialolitiasis en pacientes con SCBCN es un hallazgo inusual y poco documentado. Se presenta el caso de una paciente femenina de 18 años con antecedentes familiares de SCBCN, quien acudió al servicio de Cirugía Maxilofacial del Hospital Juárez del Centro por un aumento de volumen en la región mandibular de 6 meses de evolución. La paciente presentaba características craneofaciales típicas del SCBCN, como macrocefalia, prominencia frontal, estrabismo y laterognasia mandibular. Además, se identificaron pits palmares y plantares, así como un aumento de volumen en la región submandibular derecha. Los estudios radiográficos revelaron múltiples lesiones quísticas en la mandíbula y el maxilar, consistentes con QO, y calcificaciones en la glándula submandibular derecha, sugiriendo sialolitiasis. El diagnóstico de SCBCN se confirmó mediante la presencia de múltiples QO, pits palmares y plantares, y antecedentes familiares. La sialolitiasis se confirmó histopatológicamente tras la sialoadenectomía de la glándula submandibular derecha. El tratamiento incluyó la enucleación de los QO con aplicación de solución de Carnoy modificada y la sialoadenectomía de la glándula submandibular afectada. La paciente mostró una buena evolución postoperatoria, sin complicaciones y con regeneración ósea adecuada en los controles radiográficos posteriores. Este caso destaca la importancia de un enfoque multidisciplinario en el manejo del SCBCN, así como la necesidad de documentar y estudiar manifestaciones atípicas como la sialolitiasis en pacientes con este síndrome. La detección temprana y el manejo adecuado de las manifestaciones clínicas del SCBCN son cruciales para optimizar el tratamiento y mejorar la calidad de vida de los pacientes.
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