Pseudoxanthoma elasticum in childhood in patient with β-thalassaemia

Abstract

Pseudoxanthoma elasticum (PXE) is a rare genetic disorder characterised by elastic tissue alterations and caused by mutations in a single gene, ABCC6, on chromosome 16p that includes manifestations that are predominantly cutaneous, ocular and cardiovascular. PXE-like lesions in association with beta-thalassemia have previously been reported in the literature in patients with beta-thalassaemia intermediate and major, being clinically indistinguishable from classic PXE. The case is presented of a 10-year-old boy with beta-thalassaemia minor and characteristic lesions of PXE. It is worth noting the benefit of multimodal imaging in the diagnosis and monitoring of the lesions.

Resumen

El pseudoxantoma elástico (PXE) es una enfermedad hereditaria rara, que cursa con alteraciones del tejido conectivo, debido a una alteración en el cromosoma 16p del gen ABCC6. Clínicamente da lugar a manifestaciones predominantemente a nivel cutáneo, cardiaco y oftalmológico. La asociación de Beta talasemia y cuadros clínicos compatibles con PXE (síndromes PXE-like) ha sido descrita en la literatura en pacientes con betatalasemia major e intermedia, siendo indistinguible clínicamente del PXE clásico. Presentamos el caso de un niño de 10 años con Beta talasemia minor y lesiones características de PXE. Cabe destacar el beneficio de la imágen multimodal para el diagnóstico y seguimiento de las lesiones.