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Inicio Archivos de la Sociedad Española de Oftalmología (English Edition) Pseudoxanthoma elasticum in childhood in patient with β-thalassaemia
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Vol. 95. Issue 11.
Pages 555-558 (November 2020)
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Vol. 95. Issue 11.
Pages 555-558 (November 2020)
Short communication
Pseudoxanthoma elasticum in childhood in patient with β-thalassaemia
Pseudoxantoma elástico infantil en paciente con β-talasemia
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L. Hernández Bela,
Corresponding author
laura_hernandez_bel@hotmail.com

Corresponding author.
, A. Esteve Martínezb, R. Rodríguez Lópezc, C. Monferrer Adsuaraa, M.L. Hernández Garfellaa, E. Cervera Tauleta
a Departamento de Oftalmología, Hospital General, Valencia, Spain
b Departamento de Dermatología, Hospital General, Valencia, Spain
c Departamento de Genética, Hospital General, Valencia, Spain
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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.

Keywords:
Pseudoxanthoma elasticum
β-thalassaemia
Childhood
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.

Palabras clave:
Pseudoxantoma elástico
β-talasemia
Infantil

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