Cutis laxa associated to cardiac failure [PDF]
Jornal de Pediatria, 1999 OBJECTIVE: To focus attention on a rare pathology of the childhood which presents premature aging of the skin and can be lethal. METHODS: The authors present a case of cutis laxa, syndrome of premature aging, in an eight year-old child, and discuss the classification, diagnosis and prognosis of the disease.
Victor Cavalcanti Pardini +5 more
openaire +4 more sources
Case Report: <i>de novo</i> in-frame deletion in <i>PLCG2</i> gene: a case report of B-cell lymphopenia, pulmonary bullae, and cutis laxa. [PDF]
Front ImmunolWu X, Zhang J, Shen M.
europepmc +3 more sources
Cutis Laxa-Clinically Decoding the Complex Genodermatoses. [PDF]
Indian Dermatol Online JRitu K +4 more
europepmc +2 more sources
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
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
Prediction of electronic and half metallic properties of Mn$_2$YSn (Y = Mo, Nb, Zr) Heusler alloys [PDF]
Condens. Matter Phys., 2021, vol. 24, No. 1, 13703, 2021 We investigate the structural, electronic and magnetic properties of the full Heusler compounds Mn$_2$YSn (Y = Mo, Nb, Zr) by first-principles density functional theory using the generalized gradient approximation. It is found that the calculated lattice constants are in good agreement with the theoretical values.
arxiv +1 more source
Metabolic cutis laxa syndromes [PDF]
Journal of Inherited Metabolic Disease, 2011 AbstractCutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of elastic fibers and other proteins of the extracellular matrix. Wrinkled, inelastic skin occurs in many cases as an acquired condition.
Mohamed, Miski +5 more
openaire +5 more sources
A first-principles investigation of band inversion in topologically nontrivial Na2AgX (X= As, Sb and Bi) full Heusler compounds [PDF]
Condens. Matter Phys., 2021, vol. 24, No. 2, 23602, 2021 Topological nontrivial nature are the latest phases to be discovered in condensed matter physics with insulating bulk band gaps and topologically protected metallic surface states; they are one of the current hot topics because of their unique properties and potential applications.
arxiv +1 more source
Acquired localized cutis laxa: A case report and the role of plastic surgery
Indian Journal of Dermatology, 2019 Cutis laxa is an uncommon connective tissue disorder affecting the elastin fibers leading to lax and pendulous skin and in generalized form can present with systemic involvement.
Guru Prasad Reddy +2 more
doaj +1 more source