Pseudoxanthoma elasticum

Also known as: Grönblad–Strandberg syndrome

Elastic fiber calcification of skin, eyes and arteries.

Medical specialty: Cardiology
Subspecialty: Cardiology / Vascular medicine
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, onset in adolescence
Gene(s) involved: ABCC6, ENPP1, GGCX

Etiology & mechanism

ABCC6 deficiency causes ectopic mineralization.

Gene(s) involved (3)

ABCC6ENPP1GGCX

Symptoms & signs (7)

angioid streaksclaudicationgastrointestinal bleedinghypertensionpremature coronary diseasevision lossyellow papules on neck

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.