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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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.[1]


  1. Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients. Hamlin, N., Beck, K., Bacchelli, B., Cianciulli, P., Pasquali-Ronchetti, I., Le Saux, O. Br. J. Haematol. (2003) [Pubmed]
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