"Pseudoxanthoma elasticum (PXE), also known as Grönblad–Strandberg syndrome, is a rare heritable systemic condition characterised by the degeneration of elastic fibres. It has a wide range of multiorgan manifestations."
"Genetics "
"It was first described in 1881 by D Rigal 8. The first complete description of the syndrome was by Swedish ophthalmologist Ester E (Elisabeth) Grönblad (1898-1942) 13,14 and Swedish dermatologist James V (Victor) Strandberg (1883-1942) 13."
"Pseudoxanthoma elasticum is the result of mutations in the ABCC6 (ATP-binding cassette subfamily C member 6) gene (short art chromosome 16), which encodes a transmembrane ATP binding efflux transporter 15."
"Pseudoxanthoma elasticum is the result of mutations in the ABCC6 (ATP-binding cassette subfamily C member 6) gene (short art chromosome 16), which encodes a transmembrane ATP binding efflux transporter 15."
"Pseudoxanthoma elasticum is the result of mutations in the ABCC6 (ATP-binding cassette subfamily C member 6) gene (short art chromosome 16), which encodes a transmembrane ATP binding efflux transporter 15."
Expected headings
"Genetics "
"solid organ mineralisation (e.g. adrenal gland)"
"sequelae of ischaemia (e.g. leukoaraiosis 1)"
"It was first described in 1881 by D Rigal 8. The first complete description of the syndrome was by Swedish ophthalmologist Ester E (Elisabeth) Grönblad (1898-1942) 13,14 and Swedish dermatologist James V (Victor) Strandberg (1883-1942) 13."