A 35 Yr Female with Progressive Breathlessness: Rare Presentation of a Rare Disease

Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system. Its cause lies on mutations in the ABCC6 gene, which lead to reduction or absence of the transmembrane transport ADP dependent protein (MRP6), causing an accumulation of extracellular material and subsequent deposition of calcium and other minerals in the elastic tissue. We report a case of 35 year old female presented with progressive breathlessness and sings of right heart failure diagnosed with pseudoxanthoma elasticum, emphasizing its major clinical features and the importance of early diagnosis of the disorder, aiming for adequate therapeutic management of associated complications. With our best search of literature we could not found any case report which suggestive of ventricular wall calcification and patient presenting with symptoms of heart failure in PXE. Probably this is the first reported case in world until now.