Pseudoxanthoma elasticum: literature review and case reports
https://doi.org/10.20538/1682-0363-2017-3-185-191
Abstract
The article presents an up-to-date point of view of the etiology, pathogenesis, clinical aspects, diagnosis and treatment of pseudoxanthoma elasticum. A description of two cases of this disease involving connective tissue and manifested by skin pseudoxanthomas, flatfoot, scoliosis and mitral valve prolapse is included. Our results demonstrate that polysystem involvement requires an interdisciplinary approach to diagnosing and treating the pathology of the disease
About the Authors
Marina A. Ufimtseva
Ural State Medical University
Russian Federation
DM, Head of the Skin and Venereal Diseases Department, Ural State Medical University, Ekaterinburg, Russian Federation.
Russian Federation
DM, Head of the Skin and Venereal Diseases Department, Ural State Medical University, Ekaterinburg, Russian Federation.
Juri M. Bochkarev
Ural State Medical University
Russian Federation
PhD, Аssociate Professor, Skin and Venereal Diseases Department, Ural State Medical University, Ekaterinburg, Russian Federation.
Russian Federation
PhD, Аssociate Professor, Skin and Venereal Diseases Department, Ural State Medical University, Ekaterinburg, Russian Federation.
Olga D. Lesnsya
Orenburg State Medical University
Russian Federation
Clinical Intern of the Dermatovenerology Department, Orenburg State Medical University, Orenburg, Russian Federation.
Russian Federation
Clinical Intern of the Dermatovenerology Department, Orenburg State Medical University, Orenburg, Russian Federation.
Tatiana A. Beresneva
Ural State Medical University
Russian Federation
Postgraduate Student of the Skin and Venereal Diseases Department, Ural State Medical University, Ekaterinburg, Russian Federation.
Russian Federation
Postgraduate Student of the Skin and Venereal Diseases Department, Ural State Medical University, Ekaterinburg, Russian Federation.
References
1. Marconi B., Bobyr I., Campanati A., Molinelli E., Consales V., Brisigotti V., Scarpelli M., Racchini S., Offidani A. Pseudoxanthoma elasticum and skin: Clinical manifestations, histopathology, pathomechanism, perspectives of treatment // Intractable Rare Dis. Res. 2015; 4 (3): 113–122. DOI: 10.5582/irdr.2015.01014.
2. Uitto J., Li Q., Jiang Q. Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms // J. of Invest. Dermatol. 2010; 130 (3): 661–670. DOI: 10.1038/jid.2009.411.
3. Li Q., Kingman J., Sundberg J.P., Levine M.A., Uitto J. Etidronate prevents, but does not reverse, ectopic mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6-/-).// Oncotarget. 2016. DOI: 10.18632/oncotarget.10738.
4. Uitto J., Wang G. Molecular genetics of heritable skin diseases: pseudoxanthoma elasticum as a paradigm of China-US collaboration// J. of invest. Dermatol. 2015; 17.(1): 20–21. DOI: http://dx.doi.org/10.1038/jidsymp.2015.17.
5. Timokhov V.L., Rusanovskaya A.V. Sindrom Grenblada – Strandberga [Grönblad – Strandberg syndrome] // Oftalmologicheskie vedomosti – Ophthalmology Journal. 2014; 7(4): 69–72 (in Russian).
6. Li Q., Arányi T., Váradi A., Terry S.F., Uitto J. Research progress in pseudoxanthoma elasticum and related ectopic mineralization disorders// J. Invest. Dermatol. 2016; 136 (3): 550–556. DOI: 10.1016/j.jid.2015.10.065.
7. Matsuo F.S., Berbert A.V., Mantese S.O., Loyola A.M., Cardoso S.V., Faria P.R. Pseudoxanthoma elasticum of the skin with involvement of the oral cavity // Case Rep. Dent. 2013; 2013: 490785. DOI: 10.1155/2013/490785.
8. Lyakhovetskiy B.I., Glazkova L.K., Peretolchina T.F. Displaziya soedinitelnoy tkani: rol kollagenovykh belkov dermy [Connective tissue dysplasia: significance of dermal collagen proteins] // Rossiyskiy zhurnal kozhnykh i venericheskikh bolezney – Russian Journal of Skin and Venereal Diseases. 2012; 3: 19–22 (in Russian).
9. Ляховецкий Б.И., Глазкова Л.К., Перетолчина Т.Ф. Дисплазия соединительной ткани: роль коллагеновых белков дермы // Российский журнал кожных и венерических болезней. 2012; 3: 19–22.
10. Vilder Ey.G., Vanakker O.M. From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders // World J. Clin. Cases. 2015; 3 (7): 556–574. DOI: 10.12998/wjcc.v3.i7.556.
11. Kubota M., Hayashi T., Arai K. Choroidal neovascularization after blunt ocular trauma in angioid streak // Clin. Ophthalmol. 2013; 7: 1347–1351. DOI: 10.2147/OPTH.S45818.
12. Prunier F., Terrien G., Le Corre Y., Apana A., Bière L., Kauffenstein G., Furber A., Bergen A., Gorgels T., Le Saux O., Leftheriotis G., Martin L. Pseudoxanthoma elasticum: cardiac findings in patients and abcc6-deficient mouse model // PLoS ONE. 2013; 8 (7). DOI: 10.1371/journal.pone.0068700.
13. Uitto J., Jiang Q., Váradi A., Bercovitch L.G., Terry S.F. Pseudoxanthoma elasticum: diagnostic features, classification, and treatment options // Expert Opin. Orphan Drugs. 2014; 2 (6): 567–577. https://doi.org/10.1517/21678707.2014.908702.
14. Guérin-Moreau M., Leftheriotis G., Le Corre Y., Etienne M., Amode R., Hamel J.F., Croué A. Le Saux O., Machet L., Martin L. High-frequency (20–50 MHz) ultrasonography of pseudoxanthoma elasticum skin lesions // Br. J. Dermatol. 2013; 169 (6): 1233–1239. DOI: 10.1111/bjd.12545.
15. Li Q., Sundberg J.P., Levine M.A., Terry S.F., Uitto J. The effects of bisphosphonates on ectopic soft tissue mineralization caused by mutations in the ABCC6 ge // Cell Cycle. 2015; 14 (7): 1082–1089. DOI: 10.1080/15384101.2015.1007809.
16. Yilmaz I., Ozkaya A., Alkin Z., Yazici A.T. Intravitreal ranibizumab for bilateral choroidal neovascularisation in a patient with angioid streaks // BMJ Case Rep. 2014; 2014. pii: bcr2014204848. DOI: 10.1136/bcr-2014-204848.
Review
For citations:
Ufimtseva M.A., Bochkarev J.M., Lesnsya O.D., Beresneva T.A. Pseudoxanthoma elasticum: literature review and case reports. Bulletin of Siberian Medicine. 2017;16(3):185-191. (In Russ.) https://doi.org/10.20538/1682-0363-2017-3-185-191
Views:
1166
Email this article 