The constellation of pseudoxanthoma elasticum, ocular involvement and vascular disturbances is termed Gronblad Strandberg syndrome. Pseudoxanthoma elasticum is a genetic disorder characterized by progressive calcification and fragmentation of elastic fibres in the skin, retina and the cardiovascular system. Typically the cutaneous lesions begin in childhood, but because of their asymptomatic nature they are not noted until adolescence. In some individuals, skin lesions do not develop until later in life. If recognized early, the occurrence of retinal and gastrointestinal hemorrhage and cardiovascular complications can be minimized.
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Case report: Grönblad-Strandberg syndrome.
Rom J Ophthalmol
August 2022
Department of Ophthalmology, County Emergency Hospital Cluj-Napoca, Romania.
To present a case of secondary type 2 choroidal neovascularization (CNV) and exudative maculopathy in a patient with Grönblad-Strandberg syndrome. A 37-year-old male was admitted with bilateral progressive painless visual acuity loss and metamorphopsias. A thorough ophthalmologic and clinical examination was performed.
View Article and Find Full Text PDFAngioid Streaks in Pseudoxanthoma Elasticum.
Cureus
June 2021
College of Medicine, Umm Al-Qura University, Mecca, SAU.
Pseudoxanthoma elasticum, or Gronblad-Strandberg syndrome, is an inherited disorder that involves multiple organ systems. The characteristic degeneration and calcification of the elastic fibers caused by this disease were first observed by Ferdinand Jean Darrier in 1896. We report a case of a 27-year-old female who was diagnosed with pseudoxanthoma elasticum based on a skin biopsy prior to her presentation to our ophthalmology outpatient clinic.
View Article and Find Full Text PDFPseudoxanthoma Elasticum: Report of Two Cases.
Case Rep Dermatol
April 2021
Dermatopathology Service, General Hospital "Dr. Manuel Gea González", Mexico City, Mexico.
Elastic pseudoxanthoma is a rare disease with autosomal recessive inheritance, also known as Grönblad-Strandberg syndrome, characterized by pathological mineralization of the elastic fibers in the connective tissue, affecting principally the dermis of skin, media, and intima of blood vessels and Bruch's membrane of the eye. The genetic defect of the disorder is located on chromosome 16p13.1 and disease is caused by the lack of functional ABCC6 protein, which in turn causes extracellular accumulation and deposition of calcium and other minerals in the elastic tissue.
View Article and Find Full Text PDF[Angioid streaks in systemic disease].
Orv Hetil
June 2019
Szemészeti Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest, Üllői út 26., 1085.
Angioid streaks are defined as the special morphological alteration of the fundus; the most common clinical manifestations are irregular, reddish brownish stripes around the optic nerve head or on the posterior pole. On the basis of histological examination, the cause of this phenomenon is the breaks and continuity deficiencies in the thin layer of Bruch membrane caused by the degeneration of elastic fibers. The aim of this study is to present the ocular complication of this rare entity through the description of three cases, and to draw attention to systemic diseases in the background.
View Article and Find Full Text PDFYellow papules: the iceberg of systemic elastorrhexis.
Pan Afr Med J
September 2013
Department of Dermatology, HassanII University Hospital Center, Fez, Morocco.
Systemic elastorrhexis is a multisystem genetic disorder characterised by dystrophic mineralization of soft connective tissues in a number of organs, including the skin, the eyes and the arterial blood vessels. Although the eye and skin findings have for years attracted the attention of ophthalmologists and dermatologists, the systemic nature of the disorder has not received sufficient attention among internists and many patients with this disorder have undoubtedly been unrecognized. We reported a case of systemic elastorrhexis redressing the diagnosis of vascular leucoencephalopathy of an unknown aetiology for many years.
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