Search
pseudoxanthoma elasticum (Gronold-Strandberg syndrome)
Pathology:
1) degeneration/calcification of elastic fibers in the skin & arteries & retina
2) associated disorders
a) atherosclerosis
1] stroke
2] myocardial infarction
3] peripheral vascular disease
b) gastrointestinal hemorrhage
Genetics:
- autosomal dominant or autosomal recessive inheritance
- associated with defects in ABCC6
Clinical manifestations:
1) dermal lesions with associated laxity & loss of elasticity
2) arterial insufficiency
3) retinal hemorrhages leading to macular degeneration
4) yellow xanthoma-like papules on neck, axillae & groin (plucked-chicken skin)
5) angioid streaks may be seen in the retinal fundi
* images [3]
Laboratory:
- skin biopsy
Related
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
General
genetic disease of the skin (genodermatosis)
genetic syndrome (multisystem disorder)
Database Correlations
OMIM correlations
MORBIDMAP 603234
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
- Gaufin M, Cardis MA.
Pseudoxanthoma Elasticum With Cutis Laxa-Like Features.
JAMA Dermatol. Published online November 17, 2021
PMID: 34787648
https://jamanetwork.com/journals/jamadermatology/fullarticle/2785898