pseudoxanthoma elasticum(English)

• progressive, genodermatosis typically inherited in an autosomal recessive manner. Mutations in the ABCC6 gene result in ectopic calcification of elastic fibers in connective tissue throughout the body. Manifestations include yellow papules along flexural surfaces, cutaneous laxity, retinal complications, premature atherosclerosis and valvular cardiac sequelae; aka Grönblad-Strandberg syndrome
• ABCC6, ALP, AS, ATP, AVC, AVCS, BMI, CCTA, DM, ENPP1, eGFR, GACI, HMGCR, HTN, LDL-C, Pi, Pi/PPi, PPi, TNAP, VVG
• Dermatology, Congenital disorders, Ophthalmology, Calcium, Cardiology, Atherosclerosis /atherogenic
• https://doi.org…36/jmg.25.7.488
• https://doi.org…3/ehjci/jeaf247