Pseudoxanthoma elasticum (PXE) is a rare disorder of elastin which primarily involves the skin, cardiovascular system, and eyes, but also manifests in the central nervous system, skeleton, and gastrointestinal tract. Rigall first described the cutaneous lesions of PXE in 1881 and thought the disorder was akin to the xanthomatoses. In 1896, Darier2 showed the typical histological changes in elas...

: 243 Pseudoxanthoma Elasticum and Clotting Factor Deficiency in a Pregnant Patient Presenting Author: Kayla R. O'Toole MD Presenting Author's Institution: Washington University in Saint Louis School of Medicine Saint Louis, Missouri Co-Authors: Barbara L. Leighton MD Washington University in Saint Louis School of Medicine Saint Louis, Missour

We found high endothelin-1 and von Willebrand factor plasma titers not only in two individuals (daughter and father) affected with Pseudoxanthoma elasticum but also in a young unaffected relative. These findings raise the possibility that these molecules could be the first biochemical fingerprints of this, still not clinically evident, rare inherited disorder of elastic tissue.

Diabetic macular edema Macular edema following retinal vein occlusion (RVO) Neovascular (wet) AMD Neovascular glaucoma Pseudoxanthoma elasticum Rare causes of choroidal neovascularization (angioid streaks, choroiditis [including choroiditis secondary to ocular histoplasmosis], idiopathic degenerative myopia, retinal dystrophies, rubeosis iridis, and trauma) Retinopathy of prematurity (stage 3 t...

INTRODUCTION Pseudoxanthoma elasticum (PXE) is an inherited multisystem disorder of the elastic tissue and the objective of this case report is to correlate ultrasonographic and histological appearances of placental calcification in PXE. CLINICAL PICTURE We report a case of a 37-year-old white woman with PXE, whose antenatal imaging showed a markedly echogenic placenta due to extensive calcif...

Gri:inblad-Strandberg syndrome known as pseudoxanthoma elasticum (PXE) is a rare connective tissue disorder, the inheritance of which shows both autosomal and recessive characteristics [1]. The disease most commonly involves the skin , eyes , cardiovascular system, and gastrointestinal tract [2]. The vascular connective tissue supporting the retina, known as the Bruch membrane, tends to calcify...

Moreover, typical bullous lesions on erythematous skin were Sir, observed on his upper limbs. Mucosae were not involved. Family Pseudoxanthoma elasticum (PXE) is a generalized disorder of history was negative for PXE. Ophthalmological examinations and the connective tissue, characterized by an involvement of the echocardiogram were normal and routine laboratory tests, including cardiovascular s...