Anaesthetic Management in a Child with Cutis Laxa for Bilateral Ureteric Reimplantation
Archives of Anesthesia and Critical Care, 2021 Cutis laxa is a rare congenital multisystem connective tissue disorder. Patients with cutis laxa have facial features, pulmonary emphysema and right-sided heart failure.
Haripriya Ramachandran +1 more
doaj +1 more source
, 2013 Cutis laxa is an inherited or acquired disease characterized by redundant, sagging and inelastic skin. In inherited cutis laxa an abnormal synthesis of extracellular matrix proteins occurs due to genetic defects coding for diverse extracellular matrix components.
Mohamed, M. +6 more
openaire +3 more sources
Endocrinological disorders in children with cutis-laxa syndromes [PDF]
Romanian Journal of Pediatrics, 2022 Cutis laxa syndromes is a rare, multisystem disorder, which primary involves the skin, caused by various mutations in genes that code structural or functional components of the elastic fiber, resulting in heterogenous manifestations.
Mirela Elena Iancu +3 more
doaj +1 more source
Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1 [PDF]
, 2018 The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all ...
Callewaert +16 more
core +2 more sources
Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries [PDF]
, 2017 Homozygous or compound heterozygous mutations in fibulin-4 (FBLN4) lead to autosomal recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant cardiovascular abnormalities, including abnormal elastin assembly, arterial ...
Broekelmann, Thomas J +5 more
core +3 more sources
Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. [PDF]
, 2013 Autosomal recessive cutis laxa type I (ARCL type I) is characterized by generalized cutis laxa with pulmonary emphysema and/or vascular complications. Rarely, mutations can be identified in FBLN4 or FBLN5.
Bresson, J.L. +27 more
core +1 more source
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
core +2 more sources
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
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. [PDF]
Int J Mol Sci, 2017 Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and ...
Kariminejad A +14 more
europepmc +6 more sources