Pseudoxanthoma elasticum is a rare genetic disorder causing degeneration and calcification of elastic fibers, leading to injuries in the skin, retina, and cardiovascular system. This report describes a case of a 30-year-old woman whose diagnosis of pseudoxanthoma elasticum was confirmed after a skin biopsy. The patient presented at the Clinical Management Unit of the Department of Oral and Maxillofacial Surgery, Virgen del Rocio Hospital (Seville, Spain) with pain related to a semi-erupted lower first molar. Radiologic examination disclosed multiple dental impactions. Cases of oligodontia, amelogenesis imperfecta, and mucosal lesions related to pseudoxanthoma elasticum were found in the current literature, but there were no reports of multiple dental impactions.
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http://dx.doi.org/10.1016/j.joms.2011.11.012 | DOI Listing |
Calcif Tissue Int
January 2025
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is an uncommon hereditary form of rickets characterised by chronic renal phosphate loss and impaired bone mineralisation. This results from compound heterozygous or homozygous pathogenic variants in ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), a key producer of extracellular inorganic pyrophosphate (PPi) and an inhibitor of fibroblast growth factor23 (FGF23). ENPP1 deficiency impacts FGF23 and increases its activity.
View Article and Find Full Text PDFOphthalmic Genet
December 2024
Department of Ophthalmology, Bascom Palmer Eye Institute, Miami, Florida, USA.
Background: Pseudoxanthoma elasticum (PXE) is characterized by aberrant calcification of elastic tissues throughout the body causing varying degrees of skin, cardiac, and ocular disease. Although PXE is classically regarded as an autosomal recessive disease, recent reports have demonstrated a haploinsufficiency phenotype, in which carriers of monoallelic ATP-binding cassette transporter () gene mutations demonstrate mild manifestations of PXE. In this case report, we describe a patient with a monoallelic mutation and atypical angioid streaks.
View Article and Find Full Text PDFJ Cosmet Dermatol
December 2024
Department of Biology and Nanomedicine, National and Kapodistrian University of Athens, Athens, Greece.
Background/aim: Pseudoxanthoma elasticum (PXE) is a genetic connective tissue disorder that affects the skin with limited treatment options. A recent technology employing particle-free polycaprolactone (PCL) has shown promising results in treating inner thighs and kness of a 27-year-old female patient. This article provides a case report along with our detailed treatment protocol based on the efficacy of PCL in reversing skin laxity that can be easily incorporated into the therapeutic approaches for patients with PXE.
View Article and Find Full Text PDFDermatol Online J
October 2024
Division of Dermatology, Department of Medicine, School of Medicine, The University of Jordan, Amman, Jordan.
Pseudoxanthoma elasticum-like papillary dermal elastolysis is a rare, benign, acquired, gradually-developing chronic elastic tissue disorder that almost exclusively affects post-menopausal women. It is essential to recognize this disease as it mimics the inherited pseudoxanthoma clinically. The pathophysiology behind this disease is multifactorial; it includes intrinsic skin aging, ultraviolet radiation exposure, and genetic components.
View Article and Find Full Text PDFDermatol Online J
August 2024
Department of Dermatology, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, New Hyde Park, New York, New York, USA.
Fibroelastolytic papulosis (FEP) is an acquired cutaneous disorder of elastin that encompasses both white fibrous papulosis of the neck (WFPN) and pseudoxanthoma elasticum (PXE)-like papillary dermal elastolysis (PDE). Although FEP is a benign acquired disorder, it shares overlapping clinical features with pseudoxanthoma elasticum (PXE), a genetic disorder with systemic manifestations. We report two cases of FEP, including the WFPN and PXE-like PDE variants, in elderly women.
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