Pseudoxanthoma elasticum: Case series of three siblings

Objective & Hypothesis:Pseudoxanthoma elasticum (PXE) is a rare multisystemic genetic disease with dermatologic, cardiovascular and ocular involvement.

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Key Findings & Data:PXE primarily affects the skin, and the ocular involvement is noted in almost 85% of patients.

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Conclusion & Impact:In this report, we present three siblings diagnosed with PXE.

🔬Design:Research Article

📍Scope:Comprehensive Sample

⚙️Variables:Psödoksantoma elastikum · retinal pigmentasyon · anjioid çizgiler

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.

Özet

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.

Keywords

Psödoksantoma elastikum retinal pigmentasyon anjioid çizgiler Pseudoxanthoma elasticum retinal pigmentation angioid streaks

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Cite This Article

ESEN, M., AN, İ., İBİLOĞLU, İ., ASLAN, A., ERTEN, R. (2018). Pseudoxanthoma elasticum: Case series of three siblings. Archives of Clinical and Experimental Medicine, Cilt: 3 - Sayı: 1, 29–31. https://ajindex.com/articles/144182

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