Congenital Cutis Laxa: A Case Report and Literature Review [PDF]
Frontiers in Surgery, 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 ...
Yang Kun +4 more
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A Shared Pathogenesis? Elastic Tissue Degeneration in Two Generations: Co‐Occurrence of Acrokeratoelastoidosis and ARCL1A Cutis Laxa [PDF]
Clinical Case ReportsAKE 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 I Alrefaie +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]
Clinical Case ReportsCutis 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 ...
Subhangi Chandan +3 more
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Acquired Cutis Laxa on the Upper Eyelids and Earlobes: A Case Report and Literature Review [PDF]
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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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.
Akira Matsumoto +5 more
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Keratoglobus with ARCL1B (EFEMP2 gene) cutis laxa [PDF]
American Journal of Ophthalmology Case Reports, 2019 Purpose: To report a case of keratoglobus in a patient with autosomal recessive (AR) cutis laxa. Observations: A 38 year old male presented with decreased vision in both eyes uncorrectable with spectacles and a history of corneal rupture in the left eye ...
Thomas F. Mauger +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 Pulmonary MedicineBackground 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.
Masanori Kaji +16 more
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Autosomal recessive cutis laxa type Ib—Successful redo aortic root and arch replacement [PDF]
Clinical Case Reports, 2022 We present an adolescent girl with a highly stenotic ascending aortic conduit of her former during infancy corrected giant aneurysm. Genetic testing determined autosomal recessive cutis laxa type‐Ib as the underlying connective tissue disorder.
Christiane Pees +5 more
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Generalized acquired cutis laxa and urticarial dermatoses associated with қ-chain IgA micromolecular myeloma [PDF]
Dermatology 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 [...].
Gaia Moretta +3 more
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A Japanese Case of Lenz‐Majewski Syndrome With a Novel PTDSS1 Variant
Molecular Genetics & Genomic MedicineBackground Lenz‐Majewski syndrome (LMS) is a rare genetic disorder characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct craniofacial, dental, cutaneous, and distal‐limb anomalies.
Yasuko Kobari +8 more
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