Acquired Pseudoxanthoma elasticum‐like syndrome in β‐thalassaemia patients

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Abstract
Summary. A significant number of patients diagnosed with β‐thalassaemia develop clinical and histopathological manifestations similar to those of an inherited disorder called Pseudoxanthoma elasticum (PXE). The inherited PXE is caused by mutations in the ATP‐binding cassette, subfamily C (CFTR/MRP), member 6 (ABCC6) gene and is characterized by mineralized elastic fibres in dermal, vascular and ocular tissues. As no disease‐causing variant was found in the ABCC6 gene of 10 β‐thalassaemia patients with a PXE‐like phenotype, the present study suggests that the PXE‐like symptoms in these β‐thalassaemic patients are not related to ABCC6 mutations.