Pseudoxanthoma elasticum
Pseudoxanthoma elasticum (PXE), also known as Grönblad–Strandberg syndrome, is a systemic condition characterized by the degeneration of elastic fibers. It has multiorgan manifestations.
Epidemiology
Its prevalence is estimated to be around 1 in 25,000.
Clinical presentation
Patients may present with a characteristic xanthomatous papular rash and retinal angioid streaks. The clinical spectrum is wide and can include
- abnormal tissue mineralization in various organs (e.g. liver, kidneys, spleen, breast, and testes)
- angiomatous malformations: can result in gastrointestinal hemorrhage
- aneurysmal dilatation
- can potentially involve any vessel (intracranial , renal )
- if in the mesentery: can result in gastrointestinal hemorrhage
- narrowing and/or occlusion of visceral or peripheral arteries
- cerebrovascular events: can be ischemic or hemorrhagic
- optic disc drusen
Pathology
It is characterized by ectopic mineralization with subsequent fragmentation of elastic fibers of connective tissues, including skin, vascular walls, and the eyes.
The presence of fragmented basophilic elastic fibers in the upper and middle reticular dermis and calcification of elastic fibers are considered characteristic histological findings.
Genetics
It is largely known to have an autosomal recessive inheritance although an autosomal dominant inheritance has been proposed in some occasional cases .
History and etymology
It was first described in 1881by D Rigal.
The first complete description of the syndrome was by Swedish ophthalmologist Ester E (Elisabeth) Grönblad (1898-1942) and Swedish dermatologist James V (Victor) Strandberg (1883-1942) .
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