Results 51 to 60 of about 6,809 (242)
Pseudoxanthoma Elasticum - Also a Lung Disease? The Respiratory Affection of Patients with Pseudoxanthoma Elasticum. [PDF]
PLoS ONE, 2016 BACKGROUND:Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification. So
Simon Pingel +11 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
Ultrastructural aspects of pseudoxanthoma elasticum [PDF]
Anais Brasileiros de Dermatologia, 2017 : We report the ultrastructural findings in a case of a 72-year-old black woman with confluent yellowish papules in the cervical region. She had no comorbidities.
Hiram Larangeira de Almeida Jr. +3 more
doaj +1 more source
A novel ABCC6 variant causative of pseudoxanthoma elasticum [PDF]
, 2019 Pseudoxanthoma elasticum is an autosomal recessive heritable disorder caused by mutations in ABCC6. We describetwo siblings showing typical skin lesions and a clinical diagnosis of pseudoxanthoma elasticum.
Hladnik U +10 more
core +1 more source
Pseudoxanthoma Elasticum: Report of Two Cases
Case Reports in Dermatology, 2021 Elastic pseudoxanthoma is a rare disease with autosomal recessive inheritance, also known as Grönblad-Strandberg syndrome, characterized by pathological mineralization of the elastic fibers in the connective tissue, affecting principally the dermis of ...
Israel Antonio Esquivel-Pinto +4 more
doaj +1 more source
, 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 +5 more
core +1 more source
Periumbilical perforating pseudoxanthoma elasticum [PDF]
, 2016 A 50-year-old woman presented with a 2-year history of a yellowish plaque studded with red brown keratotic papules in the periumbilical region. Histopathological examination from the yellow plaque showed curled and granular elastic fibers in the mid and ...
Kumar, Piyush +2 more
core +1 more source
Journal of Clinical Medicine, 2020 Pseudoxanthoma elasticum (PXE), the prototype of heritable ectopic mineralization disorders, manifests with deposition of calcium hydroxyapatite crystals in the skin, eyes and arterial blood vessels. This autosomal recessive disorder, due to mutations in
Hongbin Luo, Qiaoli Li, Yi Cao, J. Uitto
semanticscholar +1 more source
The extent of angioid streaks correlates with macular degeneration in pseudoxanthoma elasticum.
American journal of ophthalmology-glaucoma, 2020 PURPOSE To investigate whether the extent of Bruch's membrane (BM) calcification is associated with choroidal neovascularization (CNV) and macular atrophy in patients with pseudoxanthoma elasticum (PXE) by using the extent of angioid streaks as a ...
S. Risseeuw +5 more
semanticscholar +1 more source
JAMA ophthalmology, 2020 Importance Correlates for Bruch membrane alterations are needed for interventional trials targeting the Bruch membrane in pseudoxanthoma elasticum (PXE).
Kristina Hess +8 more
semanticscholar +1 more source