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A Shared Pathogenesis? Elastic Tissue Degeneration in Two Generations: Co‐Occurrence of Acrokeratoelastoidosis and ARCL1A Cutis Laxa [PDF]

Clinical Case Reports
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 I Alrefaie, Sarah B. Aljoudi, Houriah Y. Nukaly, Waseem K. Alhawsawi, Asem Shadid, Sultan AlNasser, Jehad Hariri   +6 more
doaj   +4 more sources

De Novo Autosomal Dominant Cutis Laxa Type 3 With Global Developmental Delay and Musculoskeletal Features of Refractory Rickets [PDF]

Clinical Case Reports
Cutis 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, Jay Gohri, Arshia Jolly, Mayuri Chaurasia   +3 more
doaj   +4 more sources

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 Medicine
Background 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, Ho Namkoong, Shotaro Chubachi, Hiromu Tanaka, Takanori Asakura, Mizuha Haraguchi Hashiguchi, Mamiko Yamada, Tomoko Uehara, Hisato Suzuki, Naoya Tanabe, Yoshitake Yamada, Taiki Nozaki, Takeshi Ouchi, Atsutoshi Tsuji, Kenjiro Kosaki, Naoki Hasegawa, Koichi Fukunaga   +16 more
doaj   +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]

BMC Medical 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.
Qiang Zhang, Zailong Qin, Shang Yi, Hao Wei, Xun Zhao Zhou, Jiasun Su   +5 more
doaj   +4 more sources

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, Shi Mengdong, Fu Cong, Huo Ran, Huo Ran   +4 more
doaj   +2 more sources

A Case of Congenital Cutis Laxa (Generalized Elastolysis) [PDF]

Canadian Respiratory Journal, 2005
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 ...
Paul Champion, Frank Ryan
doaj   +2 more sources

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. [PDF]

J Inherit Metab Dis, 2021
Several inborn errors of metabolism show cutis laxa as a highly recognizable feature. One group of these metabolic cutis laxa conditions is autosomal recessive cutis laxa type 2 caused by defects in v-ATPase components or the mitochondrial proline cycle.
Vogt G, El Choubassi N, Herczegfalvi Á, Kölbel H, Lekaj A, Schara U, Holtgrewe M, Krause S, Horvath R, Schuelke M, Hübner C, Mundlos S, Roos A, Lochmüller H, Karcagi V, Kornak U, Fischer-Zirnsak B.   +16 more
europepmc   +4 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, Ankur Singh, Uwe Kornak, Seema Kapoor   +3 more
doaj   +2 more sources

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, Ryogo Kuba, Shogo Kasai, Yusuke Shimizu   +3 more
doaj   +2 more sources

Generalized Acquired Cutis Laxa Associated with Monoclonal Gammopathy of Dermatological Significance [PDF]

Case Reports in Dermatological Medicine, 2020
Background. Cutis laxa is a rare dermatosis that is inherited or acquired and clinically features loose, wrinkled, and redundant skin with decreased elasticity.
Sophia Z. Shalhout, Myrna R. Nahas, Reed E. Drews, David M. Miller   +3 more
doaj   +2 more sources