One hundred patients with homozygous or doubly heterozygous
beta-thalassemia (62 with the major form and 38 with beta-thalassemia
intermedia) were examined for signs of Pseudoxanthoma elasticum (PXE).
Diagnostic skin lesions were found in 16 patients with either form of
the basic disease. Twenty percent of all patients had angioid streaks
(AS); both PXE skin lesions and AS were found in 10% of the patients;
in all, 26% had either one or both of these manifestations. A positive
correlation was found between the presence of one or both types of
lesion and age of the patients (P = 0.032); there were no differences as
regards ferritin and hematocrit levels, number of transfused units,
chelation therapy, and splenic status between patients with PXE/AS
findings and those without. The pathogenesis of these connective tissue
manifestations at such a high frequency in beta-thalassemia is not
clear; the possibilities of it’s being acquired or inherited are
discussed, the former being considered to be the more economical
interpretation