A skin biopsy a 37 year old man with typical lesion of pseudoxanthoma elasticum associated with angioid striae (Groenblad-Strandberg syndrome) was examined with a scanning EM (SSM-2A) and a scanning EM provided with a X ray microanalyser. With the scanning EM (SSM-SA) it was possible to see tabular crystalline deposits with subround faces and rhombohedric tendency. The scanning EM provided with a X ray microanaliser enabled us to see crystalline deposits which in some fields adopt a star-shaped form corresponding to calcium crystals of not very well defined habit. The X ray microanalyser shows us the correspondence between the star shaped figures and a calcium salt. The potassium, sodium and magnesium analysis of the specimen permits us to verify that the pseudoxanthoma elasticum dermis is rich in K and poor in Mg.
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Trials
January 2025
Université Côte d'Azur, CNRS, LP2M, Nice, France.
Background: /aims. Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch's membrane. Variants in the ABCC6 gene are associated with low plasma pyrophosphate (PPi) concentration.
View Article and Find Full Text PDFJAAD Case Rep
February 2025
Department of Dermatology, People's Hospital of Inner Mongolia Autonomous Region, Hohhot, Inner Mongolia, China.
Ophthalmic Genet
January 2025
Department of Ophthalmology, Copenhagen University Hospital - Rigshospitalet, Glostrup, Denmark.
Introduction: Optic disc drusen (ODD) are believed to have a genetic predisposition, with autosomal dominant inheritance pattern with incomplete penetrance suggested through family pedigree analysis. ODD prevalence is higher in certain genetic disorders, such as pseudoxanthoma elasticum and retinitis pigmentosa. This study aimed to identify candidate genes potentially involved in the development of ODD.
View Article and Find Full Text PDFKlin Monbl Augenheilkd
January 2025
Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom.
A diagnosis of age-related macular degeneration (AMD) may have a significant impact on a patient's life. Therefore, it is important to consider differential diagnoses, as these can differ considerably from AMD regarding prognosis, inheritance, monitoring and therapy. Differential diagnoses include other macular diseases with drusen, drusen-like changes, monogenic retinal dystrophies, as well as a wide range of other, often rare macular diseases.
View Article and Find Full Text PDFCalcif 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.
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