|Classification and external resources|
|ICD-10||L57.4, Q82.8 (ILDS Q82.816)|
|OMIM||123700 219100 219200 304150|
|Patient UK||Cutis laxa|
Cutis laxa (also known as Chalazoderma, Dermatochalasia, Dermatolysis, Dermatomegaly, Generalized elastolysis, Generalized elastorrhexis, or Pachydermatocele) is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.
Cutis laxa may be caused by mutations in the genes: ELN, ATP6V0A2, ATP7A,FBLN4, FBLN5, and PYCR1. A related neurocutaneous syndrome may be caused by mutations in the gene ALDH18A1 aka P5CS.
It is characterized by skin that is loose, hanging, wrinkled, and lacking in elasticity. The loose skin is often most noticeable on the face, resulting in a prematurely aged appearance. The affected areas of skin may be thickened and dark. In addition, the joints are loose (hypermobility) because of lax ligaments and tendons. When cutis laxa is severe, it can also affect the internal organs. The lungs, heart (supravalvular pulmonary stenosis), intestines, or arteries may be affected with a variety of severe impairments. In some cases, hernias and outpouching of the bladder can be observed. Patients also present with blue sclera.
- Ehlers-Danlos syndrome
- Gerodermia osteodysplastica
- Occipital horn syndrome
- List of cutaneous conditions
- Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. Page 515. ISBN 0-7216-2921-0.
- Online 'Mendelian Inheritance in Man' (OMIM) Cutis Laxa, Autosomal Dominant -123700
- Online 'Mendelian Inheritance in Man' (OMIM) Cutis Laxa, Autosomal Recessive, Type II -219200
- Online 'Mendelian Inheritance in Man' (OMIM) Cutis Laxa, X-Linked -304150
- Online 'Mendelian Inheritance in Man' (OMIM) Cutis Laxa, Autosomal Recessive, Type I -219100
- Online 'Mendelian Inheritance in Man' (OMIM) Fibulin 5; FBLN5 -604580
- Online 'Mendelian Inheritance in Man' (OMIM) Pyrroline-5-Carboxylate Reductase 1; PYCR1 -179035
- Online 'Mendelian Inheritance in Man' (OMIM) Aldehyde Dehydrogenase 18 Family, Member A1; ALDH18A1 -138250
- DermAtlas 143
- Van Maldergem, Lionel; Loeys, Bart (2011-10-13). FBLN5-Related Cutis Laxa. NBK5201. In Pagon RA, Bird TD, Dolan CR et al., eds. (1993). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle.
- Van Maldergem, Lionel; Dobyns, William; Kornak, Uwe (2011-05-10). ATP6V0A2-Related Cutis Laxa. NBK5200. In GeneReviews
- Loeys, Bart; De Paepe, Anne; Urban, Zsolt (2011-05-12). EFEMP2-Related Cutis Laxa. NBK54467. In GeneReviews
- G Kaler, Stephen (2010-10-14). ATP7A-Related Copper Transport Disorders. NBK1413. In GeneReviews
- Medscape entry on Cutis Laxa