Results 121 to 130 of about 4,254 (195)

Unveiling the mystique: pseudoxanthoma elasticum case report

Revista da Sociedade Portuguesa de Dermatologia e Venereologia
Pseudoxanthoma elasticum (PXE) is a rare genetic disorder of autosomal recessive inheritance affecting the skin, eyes, and cardiovascular system. We report a case of 17-year-old female with well-defined reticulated, skin-colored plaques over the anterior
B. Birundha, Jeya Shambavi, N. Swapna
doaj  

Ocular Manifestations Leading to the Diagnosis of Pseudoxanthoma Elasticum with a Novel Heterozygous ABCC6 Mutation: A Case Report. [PDF]

Case Rep Dermatol
Fukuta A, Iwata Y, Yasuda R, Iwanaga A, Murota H, Sugiura K.   +5 more
europepmc   +1 more source

“Comet-tail” lesions of pseudoxanthoma elasticum

Indian Journal of Ophthalmology, 2018
Vinod Kumar
doaj   +1 more source

Identification of a Novel Pathogenic ABCC6 Mutation Through Familial Genetic Analysis in Pseudoxanthoma Elasticum: A Case Report. [PDF]

Cureus
Liang L, Li R, Ren D, Zhou Y.
europepmc   +1 more source

Unique Intravascular Ultrasound and Optical Coherence Tomography Features of Multivessel Coronary Stenosis in Pseudoxanthoma Elasticum. [PDF]

JACC Case Rep
Tashiro K, Ikegami R, Hoyano M, Usuda H, Washiyama Y, Akiyama T, Nishida K, Kubota N, Okubo T, Inomata T.   +9 more
europepmc   +1 more source

Measurement Reliability and Functional Validity of Bruch's Membrane Calcification in Pseudoxanthoma Elasticum: PROPXE Study Report 2. [PDF]

Invest Ophthalmol Vis Sci
Giger JAW, Ansari G, Terry SF, Charbel Issa P, Pfau K, Pfau M, PROPXE Study Group.   +6 more
europepmc   +1 more source

Liver-directed base editing of <i>ABCC6</i> prevents ectopic calcification in a variant-humanized mouse model of pseudoxanthoma elasticum. [PDF]

Mol Ther Nucleic Acids
Testa LC, Obiri-Yeboah D, Said H, Qu P, Levine MA, Alameh MG, Musunuru K, Li Q, Wang X.   +8 more
europepmc   +1 more source

Successful Pedal Bypass in a Patient With Pseudoxanthoma Elasticum. [PDF]

Vasc Endovascular Surg
Väärämäki S, Hautero O, Rajala V, Nevalainen P.   +3 more
europepmc   +1 more source

Managing Choroidal Neovascularization in Pseudoxanthoma Elasticum: Outcomes of Vitrectomy and Intravitreal Ranibizumab/Aflibercept Therapy-A Case Report. [PDF]

Case Rep Ophthalmol Med
Yamashita K, Hashizume K, Fukuda Y, Sato R, Ozawa N, Kubono H, Kawamura M, Suzuki K.   +7 more
europepmc   +1 more source

Non-Invasive Skin Imaging of Pseudoxanthoma Elasticum Using Dynamic Optical Coherence Tomography: Insights from a Case-Control Study. [PDF]

Dermatol Pract Concept
Chello C, Laghi A, Melchiorri L, Zubba I, Miraglia E, Ardigò M, Pellacani G, Giustini S.   +7 more
europepmc   +1 more source