Pseudoxanthoma-elasticum-like syndrome and thalassemia: an update.
Pseudoxanthoma Elasticum (PXE) is an autosomal recessive, multisystem disorder affecting connective tissues. We describe three cases of the acquired PXE-like syndrome that often occurs in association with hemolytic anemias, in particular the hemoglobinopathies, and review the literature on the subject. The pathogenesis of the acquired PXE-like lesions is not yet completely understood. None of the mutations observed in the inherited form has been detected in the syndrome accompanying thalassemia. The cardiovascular complications could be life-threatening. Therefore, an close surveillance of these patients is mandatory.
Fabbri
Elena
E
Pediatrics, University of Ferrara.
Forni
Gian Luca
GL
Guerrini
Giulia
G
Borgna-Pignatti
Caterina
C
D000328:Adult; D000755:Anemia, Sickle Cell / Q000150:complications* / Q000628:therapy; D001157:Arterial Occlusive Diseases / Q000209:etiology / Q000473:pathology; D001808:Blood Vessels / Q000473:pathology; D002114:Calcinosis / Q000209:etiology / Q000378:metabolism; D020405:Dermis / Q000473:pathology; D004547:Elastic Tissue / Q000648:ultrastructure; D005260:Female; D006801:Humans; D019190:Iron Overload / Q000209:etiology; D008297:Male; D008875:Middle Aged; D011561:Pseudoxanthoma Elasticum / Q000209:etiology* / Q000378:metabolism / Q000473:pathology; D012160:Retina / Q000473:pathology; D012164:Retinal Diseases / Q000209:etiology / Q000473:pathology; D013577:Syndrome; D013789:Thalassemia / Q000150:complications* / Q000628:therapy; D065227:Transfusion Reaction