Acquired Pseudoxanthoma elasticum-like syndrome in β-thalassaemia patients
Olivier Le Saux, Pacific Biomedical Research Center, University of Hawai'i, 1960 East-West Road, Honolulu, HI 96822, USA. E-mail: [email protected]
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.
