Klippel–Trenaunay and Parkes–Weber Syndromes: Differentials of Congenital Vascular Syndromes!

Deshpande, Amit Ajit; Pandey, Niraj Nirmal; Singh, Surya Pratap; Kumar, Sanjeev

doi:10.1007/s12262-020-02251-6

Cited by 3 publications

(3 citation statements)

References 2 publications

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“…It is considered a rare disorder, with an estimated incidence of one case per 100,000 individuals [ 7 ]. The diagnosis of this syndrome is based on the presence of a distinctive triad comprising arteriovenous fistulas, capillary malformations (known as port-wine stains), and overgrowth of affected limbs [ 3 ]. While its exact cause remains unknown, familial cases have been reported, suggesting a pattern of autosomal dominant inheritance [ 2 , 8 ].…”

Section: Discussionmentioning

confidence: 99%

“…Doppler ultrasound serves as an initial tool to differentiate between high-flow and low-flow malformation, providing a foundation for further assessment with MRI, which offers detailed insights into musculoskeletal and vascular anomalies [ 4 , 8 ]. Moreover, this syndrome is often confused with Klippel-Trenaunay syndrome until definitive arteriovenous malformations and genetic underpinnings are elucidated [ 3 , 6 ].…”

Section: Discussionmentioning

confidence: 99%

“…Despite the availability of various clinical series and reported cases in the literature, its etiology remains elusive [ 2 ]. It is characterized by the presence of a predominantly arteriovenous vascular malformation in a limb, resulting in disproportionate limb growth [ 3 ]. In contrast to Klippel-Trenaunay syndrome, individuals with PWS exhibit arteriovenous malformations featuring abnormal connections between the arteries and veins within the affected limb, potentially leading to cardiac insufficiency [ 4 , 5 ].…”

Section: Introductionmentioning

confidence: 99%

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Pediatric Limb Asymmetry: A Unique Presentation of Angioosteohypertrophic Syndrome

Salhi,

N'joumi,

Banana

et al. 2024

Cureus

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Parks-Weber syndrome (PWS), also known as Klippel-Trenaunay-Weber syndrome, is a rare congenital bone vascular syndrome first described in 1900. It is characterized by arteriovenous malformations in a limb, leading to disproportionate limb growth and potential heart failure. Unlike Klippel-Trenaunay syndrome, PWS manifests arteriovenous malformations with abnormal connections between the arteries and veins of the affected limb. The management of this syndrome, similar to that of Klippel-Trenaunay syndrome, relies mainly on symptomatic treatment. We report the first case of angioosteohypertrophic syndrome diagnosed at CHU Med VI Oujda, in a patient aged seven years and eight months. This syndrome manifested primarily in the right upper limb, characterized by asymmetry in both upper limbs, thermal disparity, a cutaneous nevus, and venous ectasia in the right arm. The diagnosis was further substantiated through arteriography, confirming the presence of an arteriovenous fistula.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Pediatric Limb Asymmetry: A Unique Presentation of Angioosteohypertrophic Syndrome

Salhi,

N'joumi,

Banana

et al. 2024

Cureus

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Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis

Andreoti,

Tuleja,

Döring

et al. 2023

Journal of Vascular Anomalies

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Objectives: Parkes Weber syndrome (PWS) is a rare disorder that combines overgrowth, capillary malformations, and arteriovenous malformations (AVM)/arteriovenous fistulas, for which underlying activating mutations in the ras/mitogen-activated protein kinase/extracellular-signal-regulated kinase signaling pathway have been described. The clinical overlap with Klippel-Trenauny syndrome, associated with mutations in PIK3CA, is significant. This case series aimed to elaborate on the phenotypic description of PWS, to underline its clinical overlap with Klippel-Trenauny syndrome and nonsyndromic AVM, and to evaluate the contribution of genotypic characterization to the diagnosis. Methods: All patients diagnosed with PWS upon enrollment in the Bernese VAScular COngenital Malformations (VASCOM) cohort were included. The diagnostic criteria of PWS were retrospectively reviewed. A next-generation sequencing (NGS) gene panel (TSO500, Illumina) was used on tissue biopsy samples. Results: Overall, 10/559 patients of the VAScular COngenital Malformations cohort were initially diagnosed with PWS. Three patients were reclassified as nonsyndromic AVM (Kristen Rat Sarcoma Viral oncogene homolog [KRAS], KRAS+tumor protein p53, and protein tyrosine phosphatase non-receptor type 11). Finally, 7 patients fulfilled all clinical diagnostic criteria of PWS. Genetic testing was available in 5 PWS patients. Only 1 patient had the classic RASA1 mutation; another patient had mutations in G protein subunit alpha q (GNAQ) and phosphatase and tensin homolog. In a third case, a PIK3CA mutation was detected. In 2 patients, no mutations were identified. Conclusion: Overgrowth syndromes with vascular malformations are rare and their clinical overlap hampers the classification of individual phenotypes under specific syndrome labels, sometimes even despite genetic testing. To provide optimal patient care, an accurate phenotypic description combined with the identification of molecular targets for precision medicine may be more meaningful than the syndrome classification itself.

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A Rare Cause of Chronic Leg Ulcer in Childhood: Parkes-Weber Syndrome

Atamulu

Durmuş

Seber

2022

The International Journal of Lower Extremity Wounds

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Parkes Weber syndrome is a rare congenital vascular disease characterized by capillary venous, arterio-venous and lymphatic malformations accompanied by bone or soft tissue hypertrophy in the affected body area. Lymphatic insufficiency and venous ulcers may occur as a result of increased venous pressure, caused by arterio-venous shunts. Parkes Weber syndrome is an infrequent cause of leg ulcers in childhood. Since arterio-venous malformations can lead to serious complications, it is important to recognize and start treatment immediately.

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Klippel–Trenaunay and Parkes–Weber Syndromes: Differentials of Congenital Vascular Syndromes!

Cited by 3 publications

References 2 publications

Pediatric Limb Asymmetry: A Unique Presentation of Angioosteohypertrophic Syndrome

Pediatric Limb Asymmetry: A Unique Presentation of Angioosteohypertrophic Syndrome

Parkes Weber Syndrome: Contribution of the Genotype to the Diagnosis

A Rare Cause of Chronic Leg Ulcer in Childhood: Parkes-Weber Syndrome

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