Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients

A significant number of patients diagnosed with beta-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 beta-thalassaemia patients with a PXE-like phenotype, the present study suggests that the PXE-like symptoms in these beta-thalassaemic patients are not related to ABCC6 mutations.