Parkes-Weber Syndrome

Manresa‐Manresa, Francisco; Iribarren-Marín, María Alcázar; Gómez-Ruiz, Francisco Tadeo

doi:10.1016/j.rec.2014.02.022

Cited by 6 publications

(3 citation statements)

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“…MAP kinase signaling (ERK, p38, JNK) is up-regulated in vascular RASopathies [ 52 ], infantile hemangioma [ 53 ], capillary malformation-arteriovenous malformation syndrome (CM-AVM) [ 54 ], Parkes-Weber syndrome (PWS) [ 55–57 ], Sturge-Weber syndrome (SWS) [ 58 ], HHT [ 59 ], and CCM [ 33 ]. Finally, PI3K signaling has recently been identified as an important player in CCM [ 34 ] but also contributes to PWS [ 57 ], SWS [ 58 ], venous malformation (VM and VMCM) [ 60 , 61 ], Klippel-Trénaunay syndrome (KTS) [ 62–64 ], HHT [ 65 ], and multiple PIK3CA syndromes which have associated vascular anomalies [ 66 , 67 ].…”

Section: Krit1 In Vascular Biologymentioning

confidence: 99%

KRIT1 in vascular biology and beyond

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2024

Bioscience Reports

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KRIT1 is a 75 kDa scaffolding protein which regulates endothelial cell phenotype by limiting the response to inflammatory stimuli and maintaining a quiescent and stable endothelial barrier. Loss of function mutations in KRIT1 lead to the development of cerebral cavernous malformations (CCM), a disease marked by the formation of abnormal blood vessels which exhibit a loss of barrier function, increased endothelial proliferation, and altered gene expression. While many advances have been made in our understanding of how KRIT1, and the functionally related proteins CCM2 and PDCD10, contribute to the regulation of blood vessels and the vascular barrier, some important open questions remain. In addition, KRIT1 is widely expressed and KRIT1 and the other CCM proteins have been shown to play important roles in non-endothelial cell types and tissues, which may or may not be related to their role as pathogenic originators of CCM. In this review, we discuss some of the unsettled questions regarding the role of KRIT1 in vascular physiology and discuss recent advances that suggest this ubiquitously expressed protein may have a role beyond the endothelial cell.

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Section: Krit1 In Vascular Biologymentioning

confidence: 99%

KRIT1 in vascular biology and beyond

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2024

Bioscience Reports

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“…The genetic background of PWS without CMs currently remains unknown. A specific autosomal dominant mutation of the AGGF1 gene, c.397G>A, p.Glu133Lys, has been suggested as a putative causal factor for PWS [88]. In addition, it is believed that alterations in genes that are members of PI3K may lead to some sporadic cases of PWS [89].…”

Section: Parkes Weber Syndromementioning

confidence: 99%

Genetic syndromes with vascular malformations – update on molecular background and diagnostics

et al. 2021

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Vascular malformations are present in a great variety of congenital syndromes, either as the predominant or additional feature. They pose a major challenge to the clinician: due to significant phenotype overlap, a precise diagnosis is often difficult to obtain, some of the malformations carry a risk of life threatening complications and, for many entities, treatment is not well established. To facilitate their recognition and aid in differentiation, we present a selection of notable congenital disorders of vascular system development, distinguishing between the heritable germinal and sporadic somatic mutations as their causes. Clinical features, genetic background and comprehensible description of molecular mechanisms is provided for each entity.

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“…Twelve (25.0%) cases were presented with chronic venous ulcerations of the affected limb 13,22,24,28,30,32,33,35,44,46,49,50 and four (8.3%) manifested distal arterial ischemia. 37,38,43,50 PWS and spinal AVM…”

Section: Pws and Venous Ulcerations/distal Arterial Ischemiamentioning

confidence: 99%

Parkes Weber syndrome—Diagnostic and management paradigms: A systematic review

et al. 2016

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Objectives Parkes Weber syndrome is a congenital vascular malformation which consists of capillary malformation, venous malformation, lymphatic malformation, and arteriovenous malformation. Although Parkes Weber syndrome is a clinically distinctive entity with serious complications, it is still frequently misdiagnosed as Klippel-Trenaunay syndrome that consists of the triad capillary malformation, venous malformation, and lymphatic malformation. Methods We performed a systematic review investigating clinical, diagnostic, and treatment modalities of Parkes Weber syndrome (PubMed/MEDLINE, Embase, and Cochrane databases). Thirty-six publications (48 patients) fulfilled the eligibility criteria. Results The median age of patients was 23 years (IQR, 8-32), and 24 (50.0%) were males. Lower extremity was affected in 42 (87.5%) and upper extremity in 6 (12.5%) patients; 15 (31.3%) patients developed high-output heart failure; 12 (25.0%) patients had chronic venous ulcerations, whereas 4 (8.3%) manifested distal arterial ischemia. The spinal arteriovenous malformations were reported in six (12.5%) patients and coexistence of aneurysmatic disease in five (10.4%) patients. The most frequently utilized invasive treatments were embotherapy followed by amputation and surgical arteriovenous malformation resection, and occasionally stent-graft implantation. All modalities showed clinical improvement. However, long follow-up and outcome remained unclear. Conclusion A diagnosis of Parkes Weber syndrome should be made on the presence of capillary malformation, venous malformation, lymphatic malformation, and arteriovenous malformation (as main defect) in overgrowth extremity. Arteriovenous malformation presents the criterion for distinguishing Parkes Weber syndrome from Klippel-Trenaunay syndrome, which is substantial for treatment strategy. The primary management goal should be patient's quality of life improvement and complication reduction. Embolization alone/combined with surgical resection targeting occlusion or removal of arteriovenous malformation "nidus" reliably leads to clinical improvement.

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Parkes-Weber Syndrome

Cited by 6 publications

References 0 publications

KRIT1 in vascular biology and beyond

KRIT1 in vascular biology and beyond

Genetic syndromes with vascular malformations – update on molecular background and diagnostics

Parkes Weber syndrome—Diagnostic and management paradigms: A systematic review

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