TY  - JOUR
T1  - Pseudoxanthoma elasticum: Case series of three siblings
TT  - Psödoksantoma elastikum: Üç kardeşten oluşan bir olgu serisi
AU  - Esen, Mustafa
AU  - An, İsa
AU  - İbiloğlu, İbrahim
AU  - Aslan, Adar
AU  - Erten, Remzi
PY  - 2018
DA  - March
DO  - 10.25000/acem.384455
JF  - Archives of Clinical and Experimental Medicine
JO  - Arch Clin Exp Med
PB  - Mustafa HASBAHÇECİ
WT  - DergiPark
SN  - 2564-6567
SP  - 29
EP  - 31
VL  - 3
IS  - 1
LA  - en
AB  - 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.
KW  - Pseudoxanthoma elasticum
KW  - retinal pigmentation
KW  - angioid streaks
N2  - 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.
CR  - 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.
CR  - 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.
CR  - 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.
CR  - 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.
CR  - 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.
CR  - 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.
CR  - 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.
CR  - 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.
CR  - 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.
CR  - 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.
UR  - https://doi.org/10.25000/acem.384455
L1  - http://dergipark.org.tr/tr/download/article-file/437294
ER  -