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Cutis laxa

Kalıtsal - AD, AR, XLD

30 kadar fenotip

Etkilenen genlere göre farklı fenotipler: ATP6V0A2, FBLN5, EFEMP2, LTBP4

Fenotiplere özgü farklı bulgular

Ortak bulgular:

Myopi

Deride ileri düzeyde gevşeklik/sarkma

Saçlar seyrek-kaba-kırılgan

Eklem gevşeklikleri

Konjenital kalça çıkığı

Herniler

Lipodistrofi

Vasküler patolojiler

Beyin/serebellum anomalileri

Motor gelişme geriliği

Epilepsi

 

• Karakurt C, Sipahi T, Ceylaner S, et al. Cutis laxa with growth and developmental delay. Clinical Pediatrics (Philadelphia) 40:422–423, 2001

• Basel-Vanagaite L, Sarig O, Hershkovitz D, et al. RIN2 deficiency results in macrocephaly, alopecia, cutis laxa, and scoliosis: MACS syndrome. American Journal of Human Genetics, 85:254–263, 2009

• Berk DR, Bentley DD, Bayliss SJ, et al. Cutis laxa: a review. Journal of the American Academy of Dermatology, 66(5):842.e1-17, 2012

• Fischer B, Dimopoulou A, Egerer J, et al. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Human Genetics, 131: 1761-1773, 2012

• Callewaert B, Su CT, Van Damme T, et al. Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa. Human Mutation, 34:111–121, 2013

• Mohamed M, Voet M, Gardeitchik T, Morava E. Cutis Laxa. Advances in Experimental Medicine & Biology, 802:161-184, 2014