Results 31 to 40 of about 4,254 (195)

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

Periumbilical perforating pseudoxanthoma elasticum [PDF]

, 2009
A 58-year-old, gravida 6, obese woman presented with a pruritic yellowish plaque around the umbilicus, which first appeared about 3 years ago. She also had flat yellow papules on the axilla and neck.
Kavala, Mukaddes, Kocaturk, Emek, Zindanci, Ilkin, Koc, Melek   +3 more
core   +2 more sources

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.   +18 more
core   +1 more source

D-Penicillamine Induced Degenerative Dermopathy in a Patient with Wilson Disease

Revista da Sociedade Portuguesa de Dermatologia e Venereologia, 2018
D-penicillamine induced degenerative dermatosis include, among others, elastosis perforans serpiginosa, and pseudo- -pseudoxanthoma elasticum. Elastosis perforans serpiginosa is a rare perforating disease characterized by transepidermal elimination of ...
Rui Pedro Santos, Joana Gomes, Celeste Brito   +2 more
doaj   +1 more source

Pseudoxanthoma Elasticum With Detailed Analyses of Coronary Artery Disease

JACC: Case Reports, 2023
A 60-year-old woman with pseudoxanthoma elasticum (PXE) underwent thorough coronary artery disease assessments. Intravascular imaging tests suggested fragmented and calcified elastic fibers in the internal elastic lamina, suggesting a possible ...
Tomohiro Fujisaki, MD, Masanobu Ishii, MD, PhD, MPH, Bengo Atari, MD, PhD, Tomoyo Matsumura, MD, PhD, Kenichi Tsujita, MD, PhD   +4 more
doaj   +1 more source

PSEUDOXANTHOMA ELASTICUM [PDF]

Archives of Dermatology and Syphilology, 1921
n ...
openaire   +2 more sources

Pruritic periumbilical plaque as a presentation of a rare perforating dermatosis

Indian Dermatology Online Journal, 2020
Perforating dermatoses are characterized by transepidermal elimination of altered dermal components or foreign particles. Owing to their common clinical presentation as umbilicated papules with a keratotic plug, histopathology and special staining play a
Meghana Bathina, Spandana P Hegde, Akbar A Shanavaz, Prema P Saldanha   +3 more
doaj   +1 more source

Pseudoxanthoma Elasticum Papillary Dermal Elastolysis: A Case Report

Dermatology Research and Practice, 2010
PXE-PDE is a rare clinicopathological entity with few cases reported. It affects more often elderly women and is characterized by asymptomatic bilateral and symmetrical yellowish papules localized predominantly on the neck and supraclavicular regions. It
Rubina Alves, Lurdes Ferreira, Esmeralda Vale, Olívia Bordalo   +3 more
doaj   +1 more source

Dermoscopy of pseudoxanthoma elasticum [PDF]

BMJ Case Reports, 2017
A 22-year-old woman presented with complaints of gradually progressive yellowish asymptomatic papules coalescing to form plaques over the lateral aspects of the neck since last 3 years. There were no associated systemic complaints. No similar complaints were noted in any of the family members.
Aashim, Singh, Neetu, Bhari, Anju, Bhari
openaire   +5 more sources

Pseudoxanthoma Elasticum: Case Report [PDF]

, 2022
Pseudoxanthoma elasticum (PXE) is a rare multisystem genetic disorder with estimated prevalence of 1 in 25,000. It is characterised by calcification of the elastic fibres in the skin, eyes and cardiovascular system which can lead to loss of visual acuity
Esther Myint, Than Than Htwe, Roger Kim, Vallapan Thiruvilangam, Gerald Murphy   +4 more
core   +1 more source