pseudoxanthoma elasticum (Gronold-Strandberg syndrome)
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Pathology
- degeneration/calcification of elastic fibers in the skin & arteries & retina
- associated disorders
Genetics
- autosomal dominant or autosomal recessive inheritance
- associated with defects in ABCC6
Clinical manifestations
- dermal lesions with associated laxity & loss of elasticity
- arterial insufficiency
- retinal hemorrhages leading to macular degeneration
- yellow xanthoma-like papules on neck, axillae & groin (plucked-chicken skin)
- angioid streaks may be seen in the retinal fundi
* images[3]
Laboratory
More general terms
Additional terms
- multidrug resistance-associated protein 6; ATP-binding cassette sub-family C member 6; anthracycline resistance-associated protein; multi-specific organic anion transporter E; MOAT-E (ABCC6 ARA MRP6)
- papule
- xanthoma
References
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 173
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038
- ↑ 3.0 3.1 Gaufin M, Cardis MA. Pseudoxanthoma Elasticum With Cutis Laxa-Like Features. JAMA Dermatol. Published online November 17, 2021 PMID: https://www.ncbi.nlm.nih.gov/pubmed/34787648 https://jamanetwork.com/journals/jamadermatology/fullarticle/2785898