Pseudoxanthoma elasticum

Tay, C. H.

doi:10.1136/pgmj.46.532.97

Cited by 10 publications

(7 citation statements)

References 10 publications

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“…The youngest patient described was an 11-year-old girl [15], most patients were 45 years or older [7, 16, 17, 18, 19]. In a series of 106 patients with PXE, 5 had suffered a stroke [20].…”

Section: Resultsmentioning

confidence: 99%

Prevalence of Symptomatic Intracranial Aneurysm and Ischaemic Stroke in Pseudoxanthoma Elasticum

Berg

Hennekam²,

Cruysberg

et al. 2000

Cerebrovasc Dis

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Background: Pseudoxanthoma elasticum (PXE) is an heritable connective tissue disorder with clinical manifestations of the ocular, dermal, and cardiovascular system. The purpose of this study was to investigate the prevalence of symptomatic intracranial aneurysms (IAs) and ischaemic stroke (IS) in PXE. Methods: The records of 100 patients with PXE were retrieved. All patients were contacted and data on complications were collected. The literature was reviewed regarding PXE, ISs, and IAs. Results: No patient with PXE had a symptomatic IA as presenting symptom. One patient presented with an IS. During follow-up of 94 of the 100 patients (mean follow-up 17.1 years, range 1–49 years), none presented a symptomatic IA (3,168 retrospective patient observation years and 1,602 prospective patient observation years). Upper gastrointestinal haemorrhage during follow-up occurred in 17 patients, in 1 patient during aspirin use. One patient has IS as presenting symptom and a recurrence during follow-up, and 7 patients had IS during follow-up. All were caused by small-vessel disease. The relative risk of IS in PXE under 65 years compared with the general population was 3.6 (95% confidence interval 3.3–4.0). Conclusions: On the basis of the currently available data, an association between symptomatic IAs and PXE is unlikely. However, the incidence of IS, due to small-vessel disease, was increased. Antiplatelet therapy in patients with PXE may lead to a high incidence of upper gastrointestinal haemorrhages.

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“…The youngest patient described was an 11-year-old girl [15], most patients were 45 years or older [7, 16, 17, 18, 19]. In a series of 106 patients with PXE, 5 had suffered a stroke [20].…”

Section: Resultsmentioning

confidence: 99%

Prevalence of Symptomatic Intracranial Aneurysm and Ischaemic Stroke in Pseudoxanthoma Elasticum

Berg

Hennekam²,

Cruysberg

et al. 2000

Cerebrovasc Dis

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“…Probably a more detailed examination at an early age would have revealed the presence of the typical PXE lesions when the patients were much younger, since in at least two cases the skin changes were observed in early childhood. It is also a well-known fact that the presence of the skin lesions, at the typical sites, can be confirmed by skin biopsy made before the lesions become actually visible (40).…”

Section: Discussionmentioning

confidence: 94%

“…Consequently, the possibility of a slight decrease in the average life span of PXE patients cannot be entirely excluded if larger materials were to be investigated. Information on life expectancy of PXE patients is very scanty in the literature; however, one case of early death due to hemorrhagic complications has been reported (40). With regard to the causes of death, as indicated by death certificates and autopsy reports (cases 1, 2, 3, 6, 8, 9, 10, 11 and 12), the frequency of death from cardiocerebrovascular disease is very high.…”

Section: Discussionmentioning

confidence: 99%

“…Hemorrhages in various organs are also known to occur in PXE. Most common are the gastrointestinal bleedings, which may be very severe (15,40). They have also been observed during pregnancy (30,43).…”

mentioning

confidence: 99%

“…Thus, in certain cases the mucosa has been reported to be edematous, friable, ulcerative or even necrotic (7,24,25,43). Microaneurysms (2), as well as fatty necrosis and calcification of the gastric vessels (40), have also been observed in cases of PXE complicated by gastrointestinal bleeding.…”

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confidence: 99%

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Clinical Studies on a Swedish Material of Pseudoxanthoma Elasticum

Ålinder

Boström

1972

Journal of Internal Medicine

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A study of 27 cases of pseudoxanthoma elasticum (PXE) has been made from the point of view of internal medicine. This disease is hereditary and is characterized by typical manifestations of the eyes, skin, mucous membranes and cardiovascular system. Twelve patients died at the time of the investigation, two of malignant diseases, one of gastrointestinal bleeding, and nine of cardiocerebrovascular diseases. All the 15 living patients had typical skin lesions which caused only cosmetic discomfort. In most cases these skin lesions were the first symptom of the disease. Angioid streaks were found in all the patients, nearly all of whom had impairment of vision which had mostly occurred about 20 years later than the skin lesions. The patients with impaired vision also showed different degrees of macular and peripapillary atrophy and retinal‐pigment proliferation. Manifestations of cardiocerebrovascular disease appeared in many of the patients; these symptoms were recognized somewhat later than the eye lesions, but in some cases they had occurred at an early age. Gastrointestinal bleedings occurred in four patients, in one of whom they proved fatal. No characteristic abnormalities were found in the extensive laboratory survey.

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Etiology and Pathogenesis of Intracranial Berry Aneurysms

Stehbens¹

1983

Intracranial Aneurysms

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Pseudoxanthoma elasticum

Cited by 10 publications

References 10 publications

Prevalence of Symptomatic Intracranial Aneurysm and Ischaemic Stroke in Pseudoxanthoma Elasticum

Prevalence of Symptomatic Intracranial Aneurysm and Ischaemic Stroke in Pseudoxanthoma Elasticum

Clinical Studies on a Swedish Material of Pseudoxanthoma Elasticum

Etiology and Pathogenesis of Intracranial Berry Aneurysms

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