Pseudoxanthoma elasticum

DP Germain - Orphanet journal of rare diseases, 2017‏ - Springer
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive
inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein …

Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment

B Marconi, I Bobyr, A Campanati, E Molinelli… - Intractable & rare …, 2015‏ - jstage.jst.go.jp
Pseudoxantoma elasticum (PXE), also known as Groenblad-Strandberg syndrome, is a rare
heritable disease with an estimated prevalence of 1: 50,000 in the general population. PXE …

Fibroblasts' secretome from calcified and non-calcified dermis in Pseudoxanthoma elasticum differently contributes to elastin calcification

FD Lofaro, S Costa, ML Simone, D Quaglino… - Communications …, 2024‏ - nature.com
Pseudoxanthoma elasticum (PXE) is a rare disease characterized by ectopic calcification,
however, despite the widely spread effect of pro/anti-calcifying systemic factors associated …

Pseudoxanthoma elasticum, kidney stones and pyrophosphate: from a rare disease to urolithiasis and vascular calcifications

E Letavernier, E Bouderlique, J Zaworski… - International Journal of …, 2019‏ - mdpi.com
Pseudoxanthoma elasticum is a rare disease mainly due to ABCC6 gene mutations and
characterized by ectopic biomineralization and fragmentation of elastic fibers resulting in …

Cutaneous elastic tissue anomalies

I Andrés-Ramos, V Alegría-Landa… - The American Journal …, 2019‏ - journals.lww.com
After a review of the physiology in the formation and degradation of cutaneous elastic tissue,
we describe the clinicopathologic disorders characterized by increased and decreased …

From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders

EYG De Vilder, OM Vanakker - World Journal of Clinical …, 2015‏ - pmc.ncbi.nlm.nih.gov
Ectopic mineralization-inappropriate biomineralization in soft tissues-is a frequent finding in
physiological aging processes and several common disorders, which can be associated …

[HTML][HTML] Histological Findings in the Eyes of Abcc6 Knockout Rat Model of Pseudoxanthoma Elasticum

A Sehgal, T Milman, Q Li… - … Vision Science & …, 2024‏ - iovs.arvojournals.org
Purpose: To describe the ocular findings of murine pseudoxanthoma elasticum (PXE)
models with ATP-binding cassette subfamily C member 6 (Abcc6) gene knockout. Methods …

[HTML][HTML] The utility of the normal thin section skin biopsy in the assessment of systemic/extracutaneous disease and small fiber neuropathy

CM Magro, C Stephan, T Kalomeris - Clinics in Dermatology, 2024‏ - Elsevier
Diseases reflective of multiorgan vascular injury of diverse etiology, peripheral nerve
disease, dysautonomia syndromes, and intravascular lymphoma may exhibit abnormalities …

Nonlinear optical microscopy is a novel tool for the analysis of cutaneous alterations in pseudoxanthoma elasticum

N Kiss, L Fésűs, S Bozsányi, F Szeri, M Van Gils… - Lasers in Medical …, 2020‏ - Springer
Abstract Pseudoxanthoma elasticum (PXE, OMIM 264800) is a rare autosomal recessive
disorder with ectopic mineralization and fragmentation of elastin fibers. It is caused by …

The role of vitamin K and its related compounds in Mendelian and acquired ectopic mineralization disorders

L Nollet, M Van Gils, S Verschuere… - International journal of …, 2019‏ - mdpi.com
Ectopic mineralization disorders comprise a broad spectrum of inherited or acquired
diseases characterized by aberrant deposition of calcium crystals in multiple organs, such …