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AKE and cutis laxa type ARCL1A are both disorders of elastic fibers characterized histologically by elastin degeneration and/or fragmentation. However, the pathogenesis is thought to be distinct. AKE is an autosomal dominant disorder with an unknown gene
Sumayyah Alrefaie +6 more
doaj +3 more sources
A Case of Congenital Cutis Laxa (Generalized Elastolysis) [PDF]
Cutis laxa (generalized elastolysis) is characterized by sagging folds of loose skin on the face and trunk. Although grouped with hyperelastic skin conditions such as Ehlers-Danlos syndrome, cutis laxa shows an almost total lack of skin elasticity ...
Frank Ryan, Paul Champion
core +2 more sources
The diagnostic dilemma of cutis laxa: A report of two cases with genotypic dissimilarity
Cutis laxa is a heterogeneous group of diseases, with loose, wrinkled skin folds and hyperelasticity of the skin. There are overlapping of clinical features of the group of syndrome associated with cutis laxa, including congenital cutis laxa, wrinkly ...
Seema Kapoor +3 more
openalex +3 more sources
Acquired localized cutis laxa: A case report and the role of plastic surgery
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.
GuruPrasad Reddy +2 more
openalex +3 more sources
Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature [PDF]
Background Autosomal recessive cutis laxa type IC (ARCL IC, MIM: #613177) results from a mutation in the LTBP4 gene (MIM: #604710) on chromosome 19q13.
Qiang Zhang +5 more
openalex +2 more sources
Cútis Laxa Adquirida: Relato de Caso/ Acquired Cutis Laxa: Case Reported
Introdução: A Cútis Laxa é uma doença que resulta na alteração do tecido elástico, tornando a pele frouxa. A forma adquirida é mais rara e tem etiopatogenia desconhecida.
Karla Boufleur +2 more
openalex +4 more sources
Cutis laxa is a connective tissue disorder caused by deficiency of fibro elastic plexus, which can involve multiple organs. It is inherited in autosomal dominant, autosomal recessive, and X-linked.
Mohammad Bagher Rahmati +3 more
openalex +3 more sources
Congenital Cutis Laxa: A Case Report and Literature Review
Cutis Laxa is a rare connective tissue disease featuring inelastic and saggy skin. It is thought that plastic surgery might be the most effective treatment, while the previous pieces of literature on the surgical treatment for Cutis Laxa complained of ...
Yang Kun +4 more
doaj +1 more source
Anaesthetic Management in a Child with Cutis Laxa for Bilateral Ureteric Reimplantation
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]
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

