Pseudoxanthoma elasticum: a review of the literature with a clinical case
- 作者: Gladysheva E.1, Parasunko T.1, Gladysheva K.2, Parasunko D.3, Shaar G.1, Belekhova S.1
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隶属关系:
- Academician I.P. Pavlov First St. Petersburg State Medical University
- Privolzhsky Research Medical University
- South Federal University
- 期: 卷 16, 编号 4 (2023)
- 页面: 105-118
- 栏目: Reviews
- URL: https://journals.rcsi.science/ov/article/view/254578
- DOI: https://doi.org/10.17816/OV364518
- ID: 254578
如何引用文章
详细
Pseudoxanthoma elasticum (Grönblad–Strandberg syndrome) is an inherited disease of an autosomal recessive type associated with a mutation in the ABCC6 gene, which causes a violation of the elastogenesis process. The disease is characterized by defects in the tissues of the skin, eyes and blood vessels. Skin lesions of Pseudoxanthoma elasticum represent small xanthomatous papules with tendency to be confluent; most frequently, they are located on the occipital skin, in axillary creases, on the lateral surfaces of the neck, and in skin deflection areas. The ocular involvement manifests as retinal angioid streaks on the fundus, representing the breaks in Bruch’s membrane, which often complicate by development of choroidal neovascularization. Timely diagnosis and early treatment of patients with active choroidal neovascularization caused by angioid streaks makes possible to stabilize the process and preserve visual functions.
作者简介
Ekaterina Gladysheva
Academician I.P. Pavlov First St. Petersburg State Medical University
Email: Woodstoree@ya.ru
ORCID iD: 0000-0001-9186-0994
俄罗斯联邦, 6-8 L’va Tolstogo st., Saint Petersburg, 197022
Tatyana Parasunko
Academician I.P. Pavlov First St. Petersburg State Medical University
Email: exclamation@bk.ru
ORCID iD: 0000-0003-4533-7590
SPIN 代码: 4362-6730
俄罗斯联邦, Saint Petersburg
Kristina Gladysheva
Privolzhsky Research Medical University
Email: Gladysheva.Kristyna@yandex.ru
ORCID iD: 0000-0003-1261-3376
俄罗斯联邦, Nizhniy Novgorod
Darya Parasunko
South Federal University
编辑信件的主要联系方式.
Email: dariaparasunko@gmail.com
ORCID iD: 0000-0002-0559-7163
俄罗斯联邦, Rostov-on-Don
Gassan Shaar
Academician I.P. Pavlov First St. Petersburg State Medical University
Email: ghassan_shaar@mail.ru
SPIN 代码: 2956-4480
MD, Cand. Sci. (Medicine)
俄罗斯联邦, Saint PetersburgSvetlana Belekhova
Academician I.P. Pavlov First St. Petersburg State Medical University
Email: beleksv@yandex.ru
ORCID iD: 0000-0003-0293-4811
SPIN 代码: 3637-7441
MD, Cand. Sci. (Medicine)
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