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Pseudoxanthoma elasticum [PDF]
Autopsy and Case Reports, 2017 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 leads to ectopic mineralization that is most apparent in the elastic tissues of
Bruna Morassi Sasso +2 more
doaj +8 more sources
Pseudoxanthoma Elasticum and Light-Chain Amyloidosis [PDF]
European Journal of Inflammation, 2012 Pseudoxanthoma elasticum is a heritable disorder of connective tissue characterized by cutaneous, vascular and ocular changes that result from the accumulation of fragmented elastic fibres.
M. Carlesimo +8 more
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Ophthalmologic manifestations of pseudoxanthoma elasticum
Oman Journal of Ophthalmology, 2018 Pseudoxanthoma elasticum is a hereditary disorder that affects primarily the elastic tissues in the skin, the eyes and the blood vessels.
Khrifi Zineb
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JAMA Dermatology, 2022 The poster presentation will be covering the normal and abnormal histology of the disease, pseudoxanthoma elasticum. This disease is a rare disease that results from fragmenting of elastic fibers within connective tissue. Physical characteristics of this
Gabrielle, Brokamp +2 more
openaire +3 more sources
Periumbilical perforating pseudoxanthoma elasticum: a rare case report
Dermatology Practical & Conceptual, 2018 Periumbilical perforating pseudoxanthoma elasticum (PPPXE) usually presents with well-defined periumbilical yellowish atrophic plaques with keratotic papules at the periphery.
Abhijeet K. Jha +4 more
doaj +1 more source
Anti-VEGF-therapy for pseudoxanthoma elasticum (case reports) [PDF]
Клиническая офтальмология, 2023 A.D. Chuprov, S.M. Kim, E.A. Pidodniy, A.M. Iserkepova Orenburg Branch of the S. Fyodorov Eye Microsurgery Federal State Institution, Orenburg, Russian Federation Pseudoxanthoma elasticum (PXE), also known as Gröenblad-Strandberg syndrome,
A.D. Chuprov +3 more
doaj +2 more sources
Ugeskrift for laeger, 2010 During childhood two women developed yellowish xanthoma-like papules on the neck. After dermatological examination and skin biopsy, the diagnosis pseudoxanthoma elasticum (PXE) was made. PXE is a hereditary metabolic disease which has an early onset with characteristic skin lesions.
List-Jensen, Kamille +2 more
core +4 more sources
Nonfamilial Pseudoxanthoma Elasticum: A Case Report With Review of Selected Literature. [PDF]
Clin Case RepABSTRACT A 44‐year‐old woman with classic cutaneous manifestations of nonfamilial PXE presented with multiple 3 to 10 mm yellowish papules coalescing into well‐demarcated, cobblestone‐like plaques. Previous ophthalmologic evaluation revealed retinal angioid streaks, while no cardiovascular involvement was reported.
Peniche-Luna E +5 more
europepmc +2 more sources
Pseudoxanthoma elasticum and pregnancy
Archives of Gynecology and Obstetrics, 2005 A 29-year-old woman affected by pseudoxanthoma elasticum gave birth to her second child in our department, thirteen months after the delivery of her first boy. Her care illustrates many of the potential risks of this rare autosomal systemic disorder. In order to detect any changes due to pregnancy, ophthalmologic and cardiologic screening examinations ...
Xiromeritis, P., Valembois, B.
openaire +3 more sources
Severe Hypertension and Hematologic Abnormalities in Pseudoxanthoma Elasticum: A Pediatric Case Report. [PDF]
J Clin Hypertens (Greenwich)ABSTRACT Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by pathogenic variants in ABCC6, leading to progressive calcification of elastic fibers. Although PXE typically presents in adolescence with dermatologic or ocular manifestations, early vascular involvement, including pediatric hypertension, is increasingly recognized.
Flogelova H +8 more
europepmc +2 more sources