A Shared Pathogenesis? Elastic Tissue Degeneration in Two Generations: Co-Occurrence of Acrokeratoelastoidosis and ARCL1A Cutis Laxa. [PDF]
Clin Case RepAKE 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
Alrefaie SI +6 more
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De Novo Autosomal Dominant Cutis Laxa Type 3 With Global Developmental Delay and Musculoskeletal Features of Refractory Rickets. [PDF]
Clin Case RepCutis laxa is a genetically heterogeneous disorder characterized primarily by loose, redundant skin with abnormal wrinkling and elasticity. It is an exceptionally rare condition, with an estimated prevalence of A (p.Arg126His) substitution in the ...
Chandan S +3 more
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The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up. [PDF]
BMC Pulm MedBackground Cutis laxa constitutes a diverse group of connective tissue diseases, both inherited and acquired, characterized by loose skin and varying systemic involvement, including pulmonary lesions.
Kaji M +16 more
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Two novel compound heterozygous variants of LTBP4 in a Chinese infant with cutis laxa type IC and a review of the related literature. [PDF]
BMC Med Genomics, 2020 Background Autosomal recessive cutis laxa type IC (ARCL IC, MIM: #613177) results from a mutation in the LTBP4 gene (MIM: #604710) on chromosome 19q13.
Zhang Q +5 more
europepmc +4 more sources
Congenital Cutis Laxa: A Case Report and Literature Review. [PDF]
Front Surg, 2022 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 ...
Kun Y, Mengdong S, Cong F, Ran H.
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Acquired Cutis Laxa on the Upper Eyelids and Earlobes: A Case Report and Literature Review. [PDF]
Arch Plast Surg, 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.
Katsuren K, Kuba R, Kasai S, Shimizu Y.
europepmc +2 more sources
The diagnostic dilemma of cutis laxa: A report of two cases with genotypic dissimilarity
Indian Journal of Dermatology, 2015 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 ...
Manisha Goyal +3 more
doaj +2 more sources
Bilateral lung transplantation for pulmonary emphysema associated with cutis laxa. [PDF]
JHLT OpenCutis laxa is a rare elastic tissue disorder that mainly affects the skin and results in loss of elasticity. Occasionally, pulmonary emphysema complicates this condition.
Matsumoto A +5 more
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Generalized acquired cutis laxa and urticarial dermatosis associated with k-chain IgA micromolecular myeloma. [PDF]
Dermatol Reports, 2021 Cutis laxa (CL) is a group of rare cutaneous disease, inherited or acquired, characterized by inelastic, redundant, wrinkled, loose skin, with loss of elasticity and features of premature aging [...].
Moretta G, Moro F, Fania L, Didona B.
europepmc +2 more sources