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Los hilos de la elasticidad: un viaje único a través del laberinto clínico de Pseudoxanthoma Elasticum
Divyashri R Nagarajan1, Daya Mani Jacob2, Sathya Kakade1
1Ophthalmology, Burjeel Medical City, Abu Dhabi, ARE.
Este estudio de caso destaca el pseudoxantoma elástico (PXE), un trastorno genético, en una mujer joven. Los hallazgos oftalmológicos y el análisis genético ayudaron al diagnóstico a pesar de los resultados genéticos atípicos, enfatizando la atención multidisciplinaria.
Área de la Ciencia:
- La genética
- Dermatología
- Oftalmología
Sus antecedentes:
- Pseudoxanthoma elasticum (PXE) es un trastorno autosómico recesivo que afecta a las fibras elásticas.
- El PXE generalmente involucra manifestaciones cutáneas, oculares y cardiovasculares.
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