A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]
, 2012 Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James +4 more
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Indian Journal of Paediatric Dermatology, 2016 Marshall's syndrome is a form of acquired cutis laxa without systemic involvement. It is characterized by acute onset of multiple erythematous papule and plaques that resolve with postinflammatory elastolysis and cutis laxa.
Neha Meena +3 more
doaj +1 more source
Acquired Cutis Laxa on the Upper Eyelids and Earlobes: A Case Report and Literature Review
Archives of Plastic Surgery, 2022 Acquired cutis laxa is a rare disease. Owing to few reports on the condition, no statistical data have been produced. Cutis laxa is characterized by drooping skin, caused by decreased levels of dermal elastin, leading to reduced skin elasticity.
Kyoko Katsuren +3 more
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Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region [PDF]
, 2010 Mutations in ABCC6 cause pseudoxanthoma elasticum (PXE), a heritable disease that affects elastic fibers. Thus far, >200 mutations have been characterized by various PCR-based techniques (primarily direct sequencing), identifying up to 90% of PXE-causing
Chassaing, N +9 more
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Genetics and Molecular Biology, 2005 Two unrelated patients of different sexes are described, both presenting with congenital redundant skin (cutis laxa), growth deficiency, mental retardation and bone dystrophy.
Carlos Eduardo Steiner +2 more
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Autosomal recessive cutis laxa Type II: Report of novel mutation in a child
Indian Dermatology Online Journal, 2017 Autosomal recessive cutis laxa type-II (ARCLII) is a spectrum of clinical disorders with prenatal and postnatal growth retardation, cutis laxa, dysmorphism, and skeletal abnormalities.
Rakesh Kumar +3 more
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Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis [PDF]
, 2012 Background: Vascular elasticity is crucial for maintaining hemodynamics. Molecular mechanisms involved in human elastogenesis are incompletely understood.
Coucke, Paul +11 more
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A 5-year journey with cutis laxa in an Indian child: The de barsy syndrome revisited
Indian Journal of Dermatology, 2016 De Barsy syndrome (DBS), synonymously known as autosomal recessive cutis laxa type III, is an extremely rare condition clinically characterized by cutis laxa, a progeroid appearance, and ophthalmologic abnormalities.
Abhijit Dutta +3 more
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Living with cutis laxa: an exploratory study [PDF]
, 2020 Rare diseases, while individually uncommon, collectively may impact up to 10% of the population. This makes rare disease a major global public health issue. Most rare diseases have a genetic etiology.
Solanki, Pooja
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Angiitis with Nodule Formation, Vasomotor Instability and Secondary Cutis Laxa11From the University of Southern California School of Medicine, Department of Medicine (Doctor Winsor) and Section of Dermatology (Doctor Obermayer), Los Angeles, California. [PDF]
, 1959 https://nsuworks.nova.edu/nsudigital_harrison/3625/thumbnail ...
Obermayer, Maximilian E., Winsor, Travis
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