Cutis laxa
| Cutis laxa | |
|---|---|
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | L57.4, Q82.8 (ILDS Q82.816) |
| ICD-9-CM | 701.8, 756.83 |
| OMIM | 123700 219100 219200 304150 |
| DiseasesDB | 29439 |
| eMedicine | derm/03 |
| MeSH | D003483 |
| GeneReviews | |
Cutis laxa (also known as Chalazoderma, Dermatochalasia, Dermatolysis, Dermatomegaly, Generalized elastolysis, Generalized elastorrhexis,[1] or Pachydermatocele[2]) is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.[3]
Causes
In most cases, cutis laxa is inherited. Autosomal dominant, autosomal recessive and X-linked recessive forms have been described, but acquired forms also occur.
Cutis laxa is associated with deficient or absent elastin fibers in the extracellular matrix.[4] Various mutations in genes have been identified.
Cutis laxa may be caused by mutations in the genes: ELN,[5] ATP6V0A2,[6] ATP7A,[7] FBLN4,[8] FBLN5,[9] and PYCR1.[10] A related neurocutaneous syndrome may be caused by mutations in the gene ALDH18A1 aka P5CS.[11]
Presentation
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.
See also
- Ehlers-Danlos syndrome
- Gerodermia osteodysplastica
- Occipital horn syndrome
- List of cutaneous conditions
References
- ↑ 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.
- ↑ Millington, P (2009). Skin. Cambridge University Press. p. 100. ISBN 978-0-521-10681-8.
- ↑ Plopper G (2007). The extracellular matrix and cell adhesion, in Cells (eds Lewin B, Cassimeris L, Lingappa V, Plopper G). Sudbury, MA: Jones and Bartlett. ISBN 0-7637-3905-7.
- ↑ 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
External links
- 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