Pseudoxanthoma Elasticum |Biomedgrid

Groenblad-Strandberg syndrome, also known as Pseudoxanthoma Elasticum (PXE), is a rare heritable disease. The skin, retina, and cardiovascular system are frequently affected by this genetic connective tissue disease. Discrete lesions usually first appear on the skin, then extra-dermal symptoms appear. The diagnosis is influenced by clinical symptoms, histological analysis of the lesions, and genetic testing. It is also known as multisystem orphan illness. Mutations in the ABCC6 gene cause Pseudoxanthoma Elasticum (PXE), a genetic metabolic disorder with an autosomal recessive inheritance pattern. Ectopic mineralization, which is most easily seen inside the elastic tissues of the skin, eyes, and blood vessels, is brought on by the absence of the beneficial ABCC6 protein. The ATP-dependent transmembrane transporter family member ABCC6 (also known as MRP6), whose gene codes for the protein, is expressed largely in the liver and kidneys and only slightly less in organs that are affected by PXE. Lack of functional ABCC6 protein results in ectopic mineralization, which is especially noticeable in the elastic tissues of the skin, eyes, and blood vessels. In 1881, French dermatologist Rigal became the first person to describe the condition in writing. Even though the physiological substrates of ABCC6 are still unclear, the current theory is that PXE should be viewed as a metabolic disorder with unknown circulating chemicals interfering with the synthesis, turnover, or maintenance of elastic fibres. The degree of extracutaneous organ involvement determines the Pseudoxanthoma Elasticum prognosis (PXE).