Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings

Plomp, Astrid S.; Toonstra, Johan; Bergen, Arthur A. B.; Dijk, Marijke R. van; Jong, Paulus T. V. M. de

doi:10.1002/ajmg.a.33329

Cited by 148 publications

(163 citation statements)

References 60 publications

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“…Gupta M et al Considering the classic features involving skin, eye and histology findings of lesional skin in this patient, a definitive diagnosis of PXE was made 4 ( Table 1).…”

Section: Issn 0972-0200 Photo Essaymentioning

confidence: 94%

Spectrum of features of Gronblad-Stradberg Syndrome

Gupta¹,

Vohra²

2013

Delhi Journal of Ophthalmology

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Delhi J Ophthalmol 2013; 24 (2): 123-125 Pseudoxanthoma elasticum (PXE) Pseudoxanthoma elasticum (PXE) is an inherited multisystem disease mainly affecting the skin, eyes, heart, and gastrointestinal (GI) system. Females are more commonly affected (M: F 1:2) in the third to the fourth decade. It is most commonly inherited in autosomal recessive fashion, though autosomal dominant pattern has been also seen. Mutations occur in the ABCC6 gene on chromosome 16p13.1, leading to an absent or non-functional MRP6 protein, and an acronym for multidrug resistanceassociated protein 6. It is characterized by progressive mineralization and fragmentation of the elastic fibres in the skin, retina, and blood vessels. 1A young 31 year old man presented to our clinic with a Snellen visual acuity of 6/12 in both eyes. Given a refractive correction of -0.75DSph OU, his acuity improved to 6/6 both eyes. Incidentally he also mentioned that he had developed strange stretch marks on the inner aspect of both his forearms (Figure 1) and chest over the last 4-5 years. These were otherwise asymptomatic. Dermatological consultation was taken, and similar marks were seen scattered on the anterior aspect of thigh as well as the posterolateral aspect of neck (Figure 2

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“…Gupta M et al Considering the classic features involving skin, eye and histology findings of lesional skin in this patient, a definitive diagnosis of PXE was made 4 ( Table 1).…”

Section: Issn 0972-0200 Photo Essaymentioning

confidence: 94%

Spectrum of features of Gronblad-Stradberg Syndrome

Gupta¹,

Vohra²

2013

Delhi Journal of Ophthalmology

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“…Indeed, prevalence of skin and eye symptoms increases with age [16]. Non-penetrance in adulthood is rare and positive predictive value is close to 100%.…”

Section: Clinical Specificity (Proportion Of Negative Tests If the DImentioning

confidence: 99%

Clinical utility gene card: for pseudoxanthoma elasticum

et al. 2018

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“…Tab. 1; [16,22] [29]. Dieser neue Klassifikationsvorschlag berücksichtigt die aktuellen molekulargenetischen Erkenntnisse zum PXE.…”

Section: Neue Therapeutische Entwicklungen Bei Der Erythropoetischen unclassified

Hereditäre Stoffwechselerkrankungen mit kutaner Manifestation

Frank¹,

Poblete‐Gutiérrez²

2011

Hautarzt

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Hereditary metabolic diseases are very diverse with variable pathogenetic mechanisms and clinical findings. They can manifest in different organs and, in this respect, dermatologists may play a crucial role in making the right diagnosis if they know to interpret the signs on the skin correctly. Although these are usually rare diseases, the elucidation of the underlying genetic defects has delivered an invaluable contribution to the better pathogenetic understanding of several common diseases over the last years. This is mainly attributable to the fact that the proteins encoded by these genes are often key players within important metabolic signaling pathways of the human organism. We report on new developments in the field of selected porphyria types, hereditary angioedema, pseudoxanthoma elasticum, and hereditary cutaneous leiomyomatosis, all of which constitute a challenge for both dermatologists and other specialists.

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Proposal for updating the pseudoxanthoma elasticum classification system and a review of the clinical findings

Cited by 148 publications

References 60 publications

Spectrum of features of Gronblad-Stradberg Syndrome

Spectrum of features of Gronblad-Stradberg Syndrome

Clinical utility gene card: for pseudoxanthoma elasticum

Hereditäre Stoffwechselerkrankungen mit kutaner Manifestation

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