Results 41 to 50 of about 8,705 (254)
Journal of Clinical Medicine, 2021 Active microcalcification of elastic fibers is a hallmark of pseudoxanthoma elasticum and it can be measured with the assessment of deposition of 18F-NaF using a PET/CT scan at the skin and vascular levels. It is not known whether this deposition changes
E. Lillo +9 more
semanticscholar +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 +2 more
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.
Arányi, Tamás +5 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
The complexity of visual dysfunction in patients with pseudoxanthoma elasticum
Eye, 2021 Pseudoxanthoma elasticum (PXE) is a multisystem disease characterized by calcification of elastic fibers. The eye is one of the most consistently and most severely affected organs, with vision loss being a major concern for PXE patients [1, 2].
P. Charbel Issa, Kristina Hess
semanticscholar +1 more source
Pulsatility Attenuation along the Carotid Siphon in Pseudoxanthoma Elasticum
American Journal of Neuroradiology, 2021 SUMMARY: We compared velocity pulsatility, distensibility, and pulsatility attenuation along the intracranial ICA and MCA between 50 patients with pseudoxanthoma elasticum and 40 controls. Patients with pseudoxanthoma elasticum had higher pulsatility and
J. Bartstra +9 more
semanticscholar +1 more source
ABCC6 is a basolateral plasma membrane protein [PDF]
, 2013 RATIONALE:: ABCC6 plays a crucial role in ectopic calcification; mutations of the gene cause pseudoxanthoma elasticum and general arterial calcification of infancy.
Apana, A. +11 more
core +4 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 +3 more
doaj +1 more source
The ABCC6 Transporter: A New Player in Biomineralization [PDF]
, 2017 Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. Since the first description of the disease in 1896, alleging a disease involving the elastic fibers, the concept ...
Arányi, Tamás +4 more
core +1 more source
Pseudoxanthoma elasticum [PDF]
Postgraduate Medical Journal, 1970 Summary Eight cases of pseudoxanthoma elasticum seen in a Medical Unit in Singapore are described. Of these six belonged to one family. The clinical presentations of these cases, especially the first case who was a diagnostic problem for 5 years, are described. Transmission in this family is autosomal-recessive.
openaire +2 more sources