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Pseudoxanthoma elasticum: report of two cases [PDF]

Anais Brasileiros de Dermatologia, 2014
Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system.
Gabriela Franco Marques, Sadamitsu Nakandakari, Ana Paula Cota Pinto Coelho, Maria Helena Mazzi Freire Nigro, Josmar Sabage   +4 more
doaj   +2 more sources

Pseudoxanthoma Elasticum [PDF]

Medical Journal Armed Forces India, 2008
We report a case of pseudoxanthoma elasticum in a 44-year-old Afro-Caribbean woman who presented with excessive wrinkling and loosening of the skin of the neck. She was treated by platysmoplasty and bilateral neck lift followed by latent excision of nuchal skin folds.
S, Arora, B S, Rathore, R K, Chawla, P, Ranjan   +3 more
openaire   +4 more sources

A pseudoxanthoma elasticum örökletes ektópiás mineralizációs zavar komplex multidiszciplináris ellátása [PDF]

, 2023
The authors summarize the up-to-date knowledge on pseudoxanthoma elasticum, a hereditary connective tissue disorder that results in the fragmentation and mineralization of elastic fibres.
Farkas, Klára, Lesch, Balázs, Nagy, Anikó Ilona, Kiss, Norbert, Maneschg, Otto, Apor, Astrid, Szabó, Antal, Medvecz, Márta, Szabó, Viktória   +8 more
core   +1 more source

Pseudoxanthoma elasticum

Dermatology Online Journal, 2009
A 55-year-old man with progressive loss of vision was referred for dermatology consultation for the evaluation of his skin lesions. The cutaneous examination of the patient revealed multiple small yellow papules, coalescing into plaques, on his neck, axillae and periumbilical regions. He also had redundant skin folds on the axillae.
Moreira, Ângela Puccini, Feijó, Flávia Sousa, Pinto, Jane Marcy Neffá, Martinelli, Isabella Loureiro, Rochael, Mayra Carrijo   +4 more
openaire   +8 more sources

Cutaneous polyarteritis nodosa and concurrent pseudoxanthoma elasticum–like phenotype: A case report

SAGE Open Medical Case Reports, 2020
We report a unique case of a patient presenting with histologically confirmed pseudoxanthoma elasticum–like phenotype and cutaneous polyarteritis nodosa. Cardiac, gastroenterological, and ophthalmologic evaluations were within normal limits.
Roxana Mititelu, Larry W Cheung, Denis Sasseville   +2 more
doaj   +1 more source

Pseudoxanthoma Elasticum – Genetics, Pathophysiology, and Clinical Presentation [PDF]

Progress in Retinal and Eye Research
Imre Lengyel, Maximilian Pfau, Sara Risseeuw   +2 more
exaly   +2 more sources

Advances in Pseudoxanthoma Elasticum

罕见病研究, 2023
Pseudoxanthoma elasticum(PXE) is a rare, genetic, metabolic disease characterized by ectopic calcification of connective tissue that primarily affects the skin, retina and cardiovascular system, which characteristic histopathology is calcification and ...
WANG Huifen, ZHAI Zhifang
doaj   +1 more source

Transcriptional regulation of the ABCC6 gene and the background of impaired function of missense disease-causing mutations. [PDF]

, 2013
The human ATP-binding cassette family C member 6 (ABCC6) gene encodes an ABC transporter protein expressed primarily in the liver and to a lesser extent in the kidneys and the intestines.
Boussac, Hugues de, Váradi, András, Bacquet, Caroline, Fülöp, Krisztina, Arányi, Tamás, Pomozi, Viola   +5 more
core   +1 more source

Pulsatility Attenuation along the Carotid Siphon in Pseudoxanthoma Elasticum

, 2021
We compared velocity pulsatility, distensibility, and pulsatility attenuation along the intracranial ICA and MCA between 50 patients with pseudoxanthoma elasticum and 40 controls.
van der Schaaf, I.C., Mali, W. P.T.M., Velthuis, B. K., Zwanenburg, J. J.M., Mali, W.P.T.M., van der Schaaf, I. C., Bartstra, J.W., Ruigrok, Y.M., Velthuis, B.K., van Tuijl, R. J., Zwanenburg, J.J.M., van Tuijl, R.J., Rinkel, G.J.E., Bartstra, J. W., de Jong, P. A., Spiering, W., Rinkel, G. J.E., de Jong, P.A., Ruigrok, Y. M., Regenerative Medicine and Stem Cells, Brain, Onderzoek Beeld, MS Radiologie, Infection & Immunity, MS Vasculaire & Endocrinologie, Neurologen, Researchgr. Systems Radiology, Researchgr. Hart-brein as., Circulatory Health, Cancer, Highfield Research Group, Y.M. Ruigrok, P.A. de Jong, J.J.M. Zwanenburg, W.P.T.M. Mali, G.J.E. Rinkel, B.K. Velthuis, I.C. van der Schaaf, W. Spiering, J.W. Bartstra, R.J. van Tuijl   +40 more
core   +1 more source

Pseudoxanthoma elasticum [PDF]

Archives of Disease in Childhood, 2005
Pseudoxanthoma elasticum (PXE) is a rare multisystem disorder characterised by progressive calcification and fragmentation of elastic fibres. Recent genetic advances have identified the underlying defect to the ABCC6 gene on chromosome 16p13.1. Patients typically develop cutaneous, ocular, and cardiovascular manifestations but there is considerable ...
S, Laube, C, Moss
openaire   +2 more sources