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Book

Cutis Laxa

Soumaya Gara  1 , Christopher A. Riley  2 , Noureddine Litaiem  3
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
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Book

Cutis Laxa

Soumaya Gara et al.
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Excerpt

Cutis laxa, also known as elastolysis, encompasses a spectrum of rare connective tissue disorders characterized by loose or redundant skin, along with loss of elasticity and premature aging. Heritable forms of cutis laxa exhibit diverse transmission patterns and clinical presentations and are categorized into 3 main groups based on inheritance mode—autosomal dominant, autosomal recessive, and X-linked recessive. Acquired forms of cutis laxa are more common with a delayed onset and typically manifest later in life. Histopathological examination reveals affected tissues with sparse and fragmented elastic fibers, which are attributed to mutations causing abnormal proteins that disrupt the structure of elastic fibers in affected tissues. A comprehensive multistep diagnosis and treatment plan should be implemented for all individuals with cutis laxa.

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Conflict of interest statement

Disclosure: Soumaya Gara declares no relevant financial relationships with ineligible companies.

Disclosure: Christopher Riley declares no relevant financial relationships with ineligible companies.

Disclosure: Noureddine Litaiem declares no relevant financial relationships with ineligible companies.

References

    1. Berk DR, Bentley DD, Bayliss SJ, Lind A, Urban Z. Cutis laxa: a review. J Am Acad Dermatol. 2012 May;66(5):842.e1-17. - PubMed
    1. Tassabehji M, Metcalfe K, Hurst J, Ashcroft GS, Kielty C, Wilmot C, Donnai D, Read AP, Jones CJ. An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa. Hum Mol Genet. 1998 Jun;7(6):1021-8. - PubMed
    1. Kaler SG, Gallo LK, Proud VK, Percy AK, Mark Y, Segal NA, Goldstein DS, Holmes CS, Gahl WA. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nat Genet. 1994 Oct;8(2):195-202. - PubMed
    1. Loeys B, Van Maldergem L, Mortier G, Coucke P, Gerniers S, Naeyaert JM, De Paepe A. Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa. Hum Mol Genet. 2002 Sep 01;11(18):2113-8. - PubMed
    1. Khakoo A, Thomas R, Trompeter R, Duffy P, Price R, Pope FM. Congenital cutis laxa and lysyl oxidase deficiency. Clin Genet. 1997 Feb;51(2):109-14. - PubMed

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