Case Report
Year 2018,
Volume: 3 Issue: 1, 29 - 31, 20.02.2018
Abstract
Psödoksantoma elastikum deri, kardiyovasküler sistem ve göz tutulumu olan, nadir görülen multisistemik ve genetik bir hastalıktır. Etkilenen esas organ deridir. Hastaların yaklaşık %85’inde göz tutulumu vardır. Kardiyovasküler komplikasyonlar, genellikle erişkinlerde ortaya çıkar. Prognozu genellikle ekstrakutanöz organ tutulumuna bağlı olduğu için hastalığın erken tanınması, koruyucu önlemler alınması açısından önem kazanmaktadır. Burada psödoksantoma elastikum tanısı konulan üç kardeşten oluşan bir olgu serisi sunulmaktadır.
References
- 1. Finger RP, Charbel Issa P, Ladewig MS, Gotting C, Szliska C, Scholl HP, Holz FG. Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophtalmol. 2009;54:272-85.
- 2. Hu X, Plomp AS, Van Soest S, Wijnholds J, de Jong PT, Bergen AA. Pseudoxanthoma elasticum: A clinical, histopathological, and molecular update. Surv Ophthalmol. 2003;48:424-38.
- 3. Naouri M, Boisseau C, Bonicel P, Daudon P, Bonneau D, Chassaing N, Martin L. Manifestations of pseudoxanthoma elasticum in childhood. Br J Dermatol. 2009;161:635-9.
- 4. Plomp AS, Toonstra J, Bergen AA, et al. Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings. Am J Genet A. 2010;152:1049-58.
- 5. Chassing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet. 2005;42:881-92.
- 6. Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I. Pseudoxanthoma elasticum, ocular manifestations, complications and treatment. Clin Exp Optom. 2011;94:169-80.
- 7. Gheduzzi D, Sammarco R, Quaglino D, Bercovitch L, Terry S, Taylor W, Ronchetti IP. Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum. Ultrastruct Pathol. 2003;27:375-84.
- 8. Campens L, Vanakker OM, Trachet B, Segers P, Leroy BP, De Zaeytijd J, et al. Characterization of cardiovascular involvement in pseudoxanthoma elasticum families. Arterioscler Thromb Vasc Biol. 2013;33:2646-52.
- 9. Hosen MJ, Lamoen A, De Paepe A, Vanakker OM. Histopathology of pseudoxanthoma elasticum and related disorders: Histological hallmarks and diagnostic clues. Scientifica (Cairo). 2012;2012:598262.
- 10. Uitto J, Jiang Q, Varadi A, Bercovitch LG, Terry SF. Pseudoxanthoma elasticum: Diagnostic features, classification, and treatment options. Expert Opin Orphan Drugs. 2014;2:567-77.
Year 2018,
Volume: 3 Issue: 1, 29 - 31, 20.02.2018
Abstract
Pseudoxanthoma elasticum (PXE) is a rare multisystemic genetic disease with dermatologic, cardiovascular and ocular involvement. PXE primarily affects the skin, and the ocular involvement is noted in almost 85% of patients. Cardiovascular complications caused by PXE often develop in adults. Since the prognosis of PXE is primarily dependent on extracutaneous organ involvement, early diagnosis of PXE is of prime importance for taking preventive measures. In this report, we present three siblings diagnosed with PXE.
References
- 1. Finger RP, Charbel Issa P, Ladewig MS, Gotting C, Szliska C, Scholl HP, Holz FG. Pseudoxanthoma elasticum: genetics, clinical manifestations and therapeutic approaches. Surv Ophtalmol. 2009;54:272-85.
- 2. Hu X, Plomp AS, Van Soest S, Wijnholds J, de Jong PT, Bergen AA. Pseudoxanthoma elasticum: A clinical, histopathological, and molecular update. Surv Ophthalmol. 2003;48:424-38.
- 3. Naouri M, Boisseau C, Bonicel P, Daudon P, Bonneau D, Chassaing N, Martin L. Manifestations of pseudoxanthoma elasticum in childhood. Br J Dermatol. 2009;161:635-9.
- 4. Plomp AS, Toonstra J, Bergen AA, et al. Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings. Am J Genet A. 2010;152:1049-58.
- 5. Chassing N, Martin L, Calvas P, Le Bert M, Hovnanian A. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet. 2005;42:881-92.
- 6. Georgalas I, Tservakis I, Papaconstaninou D, Kardara M, Koutsandrea C, Ladas I. Pseudoxanthoma elasticum, ocular manifestations, complications and treatment. Clin Exp Optom. 2011;94:169-80.
- 7. Gheduzzi D, Sammarco R, Quaglino D, Bercovitch L, Terry S, Taylor W, Ronchetti IP. Extracutaneous ultrastructural alterations in pseudoxanthoma elasticum. Ultrastruct Pathol. 2003;27:375-84.
- 8. Campens L, Vanakker OM, Trachet B, Segers P, Leroy BP, De Zaeytijd J, et al. Characterization of cardiovascular involvement in pseudoxanthoma elasticum families. Arterioscler Thromb Vasc Biol. 2013;33:2646-52.
- 9. Hosen MJ, Lamoen A, De Paepe A, Vanakker OM. Histopathology of pseudoxanthoma elasticum and related disorders: Histological hallmarks and diagnostic clues. Scientifica (Cairo). 2012;2012:598262.
- 10. Uitto J, Jiang Q, Varadi A, Bercovitch LG, Terry SF. Pseudoxanthoma elasticum: Diagnostic features, classification, and treatment options. Expert Opin Orphan Drugs. 2014;2:567-77.
There are 10 citations in total.
Details
| Primary Language | English |
|---|---|
| Subjects | Internal Diseases |
| Journal Section | Case Report |
| Authors | |
| Publication Date | February 20, 2018 |
| Published in Issue | Year 2018 Volume: 3 Issue: 1 |
