Pseudoxanthoma elasticum
| Pseudoxanthoma elasticum | |
|---|---|
| Other names | Grönblad–Strandberg syndrome;[1] Groenblad-Strandberg syndrome |
| Pseudoxanthoma elasticum of the posterior lateral neck. Note the yellowish slightly raised bumps characteristic of this condition. | |
| Specialty | Medical genetics |
Pseudoxanthoma elasticum (PXE) is a genetic disease that causes mineralization of elastic fibers in some tissues. The most common problems arise in the skin and eyes, and later in blood vessels in the form of premature atherosclerosis.[2][3][4] PXE is caused by autosomal recessive mutations in the ABCC6 gene on the short arm of chromosome 16 (16p13.1).[3][5][6]
- ^ Rapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ^ Li Q, van de Wetering K, Uitto J (February 2019). "Pseudoxanthoma Elasticum as a Paradigm of Heritable Ectopic Mineralization Disorders: Pathomechanisms and Treatment Development". review. The American Journal of Pathology. 189 (2): 216–225. doi:10.1016/j.ajpath.2018.09.014. PMC 6412714. PMID 30414410.
- ^ a b Chassaing N, Martin L, Calvas P, Le Bert M, Hovnanian A (December 2005). "Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations". review. Journal of Medical Genetics. 42 (12): 881–92. doi:10.1136/jmg.2004.030171. PMC 1735972. PMID 15894595.
- ^ Finger RP, Charbel Issa P, Ladewig MS, Götting C, Szliska C, Scholl HP, Holz FG (2009). "Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches". review. Survey of Ophthalmology. 54 (2): 272–85. doi:10.1016/j.survophthal.2008.12.006. PMID 19298904.
- ^ Marconi B, Bobyr I, Campanati A, Molinelli E, Consales V, Brisigotti V, et al. (August 2015). "Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment". review. Intractable & Rare Diseases Research. 4 (3): 113–22. doi:10.5582/irdr.2015.01014. PMC 4561240. PMID 26361562.
- ^ Germain DP (May 2017). "Pseudoxanthoma elasticum". review. Orphanet Journal of Rare Diseases. 12 (1): 85. doi:10.1186/s13023-017-0639-8. PMC 5424392. PMID 28486967.