Pseudoxanthoma elasticum: Similar autosomal recessive subtype in Belgian and Afrikaner families

Abstract

A multidisciplinary survey of the clinical and genetic characteristics of 26 Belgian and 32 Afrikaner families with biopsy-proven pseudoxanthoma elasticum (PXE) was undertaken. The major PXE phenotype emerging from this study is very similar in both patient groups and is characterized by severe ophthalmologic manifestations with variable, mild cutaneous and vascular symptoms. In the families with more than one affected relative, segregation analysis is compatible with autosomal recessive inheritance in both groups. It is suggested that the PXE phenotype of these Belgian and Afrikaner patients is distinct from the other recognized PXE subtypes. The phenotypic resemblance in both patient groups raises the question whether a similar genetic mechanism is involved.

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations

“…Its prevalence seems higher in Afrikaners from South Africa, mainly because of a founder effect. 27 28 A ubiquitous female to male ratio of around 2:1 is usually reported, but there is no satisfactory explanation for this. PXE is characterised by marked clinical heterogeneity, even between siblings, in relation to age of onset and the extent and severity of organ system involvement.…”

Pseudoxanthoma elasticum, ocular manifestations, complications and treatment

“…Pseudoxanthoma elasticum appears to be present in all of the world's populations, with an estimated prevalence range between 1:25,000 and 1:100,000 28 . Prevalence seems to be higher in South Africa compared with other regions, possibly due to a founder effect 29 . Applying the Hardy–Weinberg equilibrium, this leads to a frequency of 1.25 per cent heterozygotes (1:80)* 28 .…”

Novel clinico-molecular insights in pseudoxanthoma elasticum provide an efficient molecular screening method and a comprehensive diagnostic flowchart

“…Pseudoxanthoma elasticum (PXE; MIM# 264800) is an autosomal recessive systemic disorder characterized by abnormalities of the skin (papular lesions and increased laxity in flexural areas), the ocular system (peau d'orange and/or angioid streaks with subretinal neovascularisation, haemorrhage and loss of central vision) and the cardiovascular system (accelerated atherosclerosis) [Neldner, 1988;De Paepe et al, 1991;Hu et al, 2003]. Its prevalence is estimated to be 1:75000 [Hu et al, 2003].…”