From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders

Table 3 Differential diagnosis of the pseudoxanthoma elasticum-like syndrome[19,47]

Disease	Distinct differences with PXE-like syndrome
PXE (AR; ABCC6 gene)	More severe CV and ophthalmological manifestations Skin lesions are less severe and restricted to flexural areas No coagulation factor deficiency associated EM: mineralization in the core of the EF
Cutis laxa	No retinopathy No deficiency of coagulation factors Atherosclerosis and cerebral aneurysm are infrequent Histopathology: scarce and mottled elastic fibers, no mineralization

ABCC6: Adenosine triphosphate-binding cassette, subfamily C, member 6; AR: Autosomal recessive; CV: Cardiovascular; EF: Elastic fiber; EM: Electron microscopy; PXE: Pseudoxanthoma elasticum.