OPHTHALMOLOGICAL MANIFESTATIONS OF GRONBLAD-STRANDBERG SYNDROME (CLINICAL OBSERVATION)

ERNEST BOYKO; NATALIA ZUMBULIDZE; ANATOLY KONONOV; ANTON SHARMA; MEDEA GOBEJISHVILI

doi:10.52340/jecm.2024.02.10

OPHTHALMOLOGICAL MANIFESTATIONS OF GRONBLAD-STRANDBERG SYNDROME (CLINICAL OBSERVATION)

Authors

ERNEST BOYKO I.I. Mechnikov North-Western State Medical University, St. Petersburg, Russia
NATALIA ZUMBULIDZE I.I. Mechnikov North-Western State Medical University, St. Petersburg, Russia
ANATOLY KONONOV Ophthalmological Clinic of I.I. Mechnikov Northwestern State Medical University, St. Petersburg, Russia
ANTON SHARMA I.I. Mechnikov North-Western State Medical University, St. Petersburg, Russia
MEDEA GOBEJISHVILI First University Clinic of Tbilisi State Medical University, Georgia

DOI:

https://doi.org/10.52340/jecm.2024.02.10

Keywords:

Gronblad, Strandberg, Pseudoxanthoma elasticum

Abstract

Pseudoxanthoma Elasticus (Grönblad-Strandberg syndrome) is a hereditary disease that affects the elastic fibers of the skin, the cardiovascular system and the retina of the eyes. In the early stages, skin manifestations have the appearance of papules with a distinct yellowish tint, the size of a millet grain, with a tendency to merge, usually on the inner bends of the elbows and the sides of the neck. The affected skin is thickened, loose and easily folded. “Sagging” skin progresses and causes premature aging. Sometimes papules are found in the inguinal folds, popliteal areas, on the mucous membranes of the mouth, vagina and rectum. On the part of the organ of vision, changes occur in stages. The early stages are characterized by the appearance of angioid stripes of the retina, which appear as a result of calcification of the elastic fibers of the capillaries. The progression of the process leads to neovascularization and hemorrhages from the choriocapillaris, the formation of SNM, which, when localized in the foveolar region, causes decreased vision. The later stages are characterized by rough cicatricial changes. Due to calcification of elastic fibers of blood vessels, patients need to avoid injuries (especially to the head and/or eyes), limit the use of NSAIDs and anticoagulants (the risk of hemorrhages in the retina, brain and gastrointestinal bleeding is increased).

Downloads

Download data is not yet available.

References

Conrath J, Matoni F. Stries angioïdes. EMC Ophtalmologie 2012;9(2):1-7 [Article 21-242C-10]. Publication avec l’autorisation de reproduction.

Тимохов В.Л., Русановская А.В. Синдром Гренблада-Страндберга. Офтальмологические ведомости. 2014; 7(4):69-72.

Кряжева С.С., Снарская Е.С., Карташова М.Г., Филатова И.В. Синдром Гренблада-Страндберга. Российский журнал кожных и венерических болезней. 2011;5:5.

Fukumoto T, Iwanaga A, Fukunaga A et al. First genetic analysis of atypical phenotype of pseudoxanthomaelasticum with ocular manifestations in the absence of characteristic skin lesions. J. Eur. Acad. Dermatol. Venereol. 2017;12.

Jiang Q, Endo M, Dibra F, Wang K, Uitto J. Pseudoxanthoma elasticum is a metabolic disease. J Invest Dermatol 2009;129:348-54.

Оркин В.Ф., Платонова А.Н., Марченко В.М. Псевдоксантома эластическая (синдром Гренблада - Страндберга). // Клиническая дерматология и венерология. – 2008. – Т.3. – №6– C.44-46.

Wolff K, Goldsmith L, Katz S, et al. Fitzpatrick's Dermatology in General Medicine 2012. 1426-1429.

Finger RP, Issa PCh, Ladewig MS, et al. Pseudoxanthoma Elasticum: Genetics, Clinical Manifestations and Therapeutic Approaches. 2009;54(2): 272–285. DOI:10.1016/j.survophthal.2008.12.006.

Rigal D. Observation pour servir a` l’histoire de la che ́loide diffuse xanthelmique. Annales de dermatologie et de syphiligraphie. 1881;2:491-5.

Knapp H. On the formation of dark angioid streaks as an unusual metamorphosis of retinal hemorrage. Arch Oph- thalmol. 1892;21:289-92.

Groenblad E. Angioid streaks - Pseudoxanthoma elasticum; vorla ̈ufig Mitteilung. Acta Ophthalmol. 1929;7:329.

Jensen OA. Bruchs membrane in pseudoxanthoma elasticum. Histochemical, ultrastructural, and X-ray microanalytical study of the membrane and angioid streak areas. Albrecht Von Graefes Arch Klin Exp Ophthalmol 1977;203:311-20.

Clarkson JG, Altman RD. Angioid streaks. Surv Ophthalmol. 1982;26:235–246. doi:10.1016/0039-6257(82)90158-8.

Jampol LM, Acheson R, Eagle RC, Serjeant G, O'Grady R. Calcification of Bruch's Membrane in Angioid Streaks With Homozygous Sickle Cell Disease. Arch Ophthalmol. 1987;105(1):93–98. doi:10.1001/archopht.1987.01060010099039

Baccarani-Contri M, Vincenzi D, Cicchetti F, et al. Immunochemical identification of abnormal constituents in the dermis of pseudoxanthoma elasticum patients. Eur J Histochem. 1994;38:111-3.

Quaglino D, Boraldi F, Barbieri D, et al. Abnormal phenotype of in vitro dermal fibroblasts from patients with Pseudoxanthoma elasticum (PXE). // Biochim Biophys Acta. 2000;1501:51-62.

Gotting C, Sollberg S, Kuhn J, et al. Serum xylosyltransferase: a new biochemical marker of the sclerotic process in systemic sclerosis. J Invest Dermatol. 1999;112:919-24.

Uitto J. Pseudoxanthoma elasticuma connective tissue disease or a metabolic disorder at the genome/environment interface? J Invest Dermatol. 2004;122:9-10.

Aessopos A, Farmakis D, Loukopoulos D. Elastic tissue abnormalities resembling pseudoxanthoma elasticum in beta thalassemia and the sickling syndromes. Blood. 2002; 99:30-5.

Hamlin N, Beck K, Bacchelli B, et al. Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients. Br J Haematol. 2003;122:852-4.

Pasquali-Ronchetti I, Garcia-Fernandez MI, Boraldi F, et al. Oxidative stress in fibroblasts Ofrom patients with pseudoxanthoma elasticum: possible role in the pathogenesis of clinical manifestations. J Pathol. 2006;208(1):54-61.

Bergen AA, Plomp AS, Schuurman EJ, et al. Mutations in ABCC6 cause pseudoxanthoma elasticum. Nat Genet. 2000;25:228-31.

Le Saux O, Urban Z, Tschuch C, et al. Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. Nat Genet. 2000;25:223-7.

Ringpfeil F, Lebwohl MG, Uitto J. Abstracts: mutations in the MRP6 gene cause pseudoxanthoma elasticum. J Invest Dermatol. 2000;115:332.

Struk B, Cai L, Zach S, et al. Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum. J Mol Med. 2000;78:282-6.

Gorgels TG, Hu X, Scheffer GL, et al. Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum. Hum Mol Genet. 2005;14:1763-73.

Chassaing N, Martin L, Mazereeuw J, et al. Novel ABCC6 mutations in pseudoxanthoma elasticum. J Invest Derma- tol. 2004;122:608-13.

Gheduzzi D, Guidetti R, Anzivino C, et al. ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE). Hum Mutat. 2004;24:438-9.

Hu X, Plomp AS, van Soest S, et al. Pseudoxanthoma elasticum: a clinical, histopathological, and molecular update. Surv Ophthalmol. 2003;48:424-38.

Le Saux O, Beck K, Sachsinger C, et al. A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum. Am J Hum Genet. 2001;69:749-64.

Aessopos A, Farmakis D, Loukopoulos D. Elastic tissue abnormalities in inherited haemolytic syndromes. Eur J Clin Invest. 2002;32:640-2.

Elouarradi H., Abdelouahed K. Angioid streaks.Pan Afr. Med. J, 2014; 17: 13.

Challenor VF, Conway N, Monro JL. The surgical treatment of restrictive cardiomyopathy in pseudoxanthoma elasticum. Br Heart J. 1988;59:266-9.

Fukuda K, Uno K, Fujii T, et al. Mitral stenosis in pseudoxanthoma elasticum. Chest. 1992;101:1706-7

Lebwohl M, Halperin J, Phelps RG. Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease. N Engl J Med. 1993;329:1237-9

Lebwohl MG, Distefano D, Prioleau PG, et al. Pseudoxanthoma elasticum and mitral-valve prolapse. N Engl J Med. 1982;307:228-31

Krill AE, Klien BA, Archer DB. Precursors of angioid streaks. Am J Ophthalmol. 1973;76:875-879.

Gills JP. Jr., Paton D. Mottled fundus oculi in pseudoxanthoma elasticum; a report on two siblings. Arch Ophthalmol. 1965;73:792-5.

Benitez-Herreros, J.; Camara-Gonzalez, C.; Lopez-Guajardo, L.; Beckford-Torngren, C.; Pareja-Esteban, J. (2014). Neovascularización coroidea secundaria a estrías angioides: un caso familiar. Archivos de la Sociedad Española de Oftalmología, 89(5), 190–193. doi:10.1016/j.oftal.2012.11.005

Mansour AM, Ansari NH, Shields JA, et al. Evolution of angioid streaks. Ophthalmologica.1993;207:57-61.