Klippel–Trenaunay syndrome

Auluck, Ajit; Setty, Suhas; Pai, Keerthilatha M.

doi:10.1111/j.1601-0825.2005.01072.x

Cited by 21 publications

(4 citation statements)

References 9 publications

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“…U re gi o ni ma za hva će nim hiper tro fi jom mo gu se ja vi ti he man gi o mi ko že (ne vus flam meus) raz li či te ve li či ne i ne pra vil nog ob li ka. Kao va sku lar ne le zije, u sklo pu ovog sin dro ma mo gu se ja vlja ti i va ri ko zi te ti [1][2][3][4][5]. Mo del na sle đi va nja KTVS ni je po znat, eti o lo gi ja ni je sa svim rasve tlje na, ali uzrok mo gu bi ti me zo der mal ne ano ma li je to kom em bri o nal nog raz vo ja.…”

Section: Discussionunclassified

“…Cutaneous hemangiomas (naevus flammeus) of varying extent and irregular contours are often present in the hypertrophic regions. Varicosities may also be part of the vascular lesions of this syndrome [1][2][3][4][5]. The pattern of inheritance for KTWS is unknown and its aetiology has not yet been determined, but it may be caused by mesodermal abnormalities during foetal development.…”

Section: Introductionmentioning

confidence: 99%

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Klipplel-Trénaunay-Weber syndrome: A case report

Melo¹,

Boechat²,

Coutinho

et al. 2009

SERBIAN DENT J

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Klippel-Trénaunay-Weber Syndrome (KTWS) is a rare congenital malformation that may include port-wine stain, soft tissue and bony hypertrophy, and venous malformations and lymphatic abnormalities. The oral findings include an enlarged maxilla, gingival enlargement, malocclusion and premature tooth eruption. This report describes a case of gingival enlargement in an 8-year-old male child with KTWS. The extraoral clinical examination revealed discrete hemifacial hypertrophy on the left side and hyperpigmented spots on the anterior region of the neck, left arm and left leg. The intraoral clinical examination showed a deep palate and enlarged buccal and palatal gingiva in the anterior maxilla. Complete blood count and all general medical examinations showed values within normal range while the psychological evaluation indicated a mild learning delay. Although it rarely involves the orofacial region, KTWS should be included in the differential diagnosis of severe gingival enlargement. In view of the potentially dangerous complications that can arise, it is imperative the dental surgeon has a thorough knowledge of this condition and its management

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Section: Discussionunclassified

Section: Introductionmentioning

confidence: 99%

Klipplel-Trénaunay-Weber syndrome: A case report

Melo¹,

Boechat²,

Coutinho

et al. 2009

SERBIAN DENT J

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“…This syndrome usually affects the extremities but occasionally it may be manifested in the craniofacial region, including the oral cavity. 8 The association between extensive venous malformations and hypercoagulability is well established. Haematological evidence of low-grade consumptive coagulopathy has been documented repeatedly for patients with large venous malformations.…”

Section: Commentsmentioning

confidence: 99%

Klippel–Trénaunay syndrome associated with great saphenous vein aplasia

Herman

Musil

2010

Phlebology

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“…Klippel-Trenaunay syndrome (KTS, MIM *149 000) is a congenital vascular disease characterized by malformations of capillary vessels, veins, and lymphatics, and soft tissue or bony hypertrophy. 1–5 The cause of KTS is poorly understood, but our previous studies identified AGGF1 as the first gene associated with KTS and showed that KTS is caused by increased AGGF1 expression. 6…”

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confidence: 99%

Receptor and Molecular Mechanism of AGGF1 Signaling in Endothelial Cell Functions and Angiogenesis

Wang

Peng

Timur

et al. 2021

ATVB

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Objective: Angiogenic factor AGGF1 (angiogenic factor and G-patch and FHA [Forkhead-associated] domain 1) promotes angiogenesis as potently as VEGFA (vascular endothelial growth factor A) and regulates endothelial cell (EC) proliferation, migration, specification of multipotent hemangioblasts and venous ECs, hematopoiesis, and vascular development and causes vascular disease Klippel-Trenaunay syndrome when mutated. However, the receptor for AGGF1 and the underlying molecular mechanisms remain to be defined. Approach and Results: Using functional blocking studies with neutralizing antibodies, we identified α5β1 as the receptor for AGGF1 on ECs. AGGF1 interacts with α5β1 and activates FAK (focal adhesion kinase), Src, and AKT. Functional analysis of 12 serial N-terminal deletions and 13 C-terminal deletions by every 50 amino acids mapped the angiogenic domain of AGGF1 to a domain between amino acids 604-613 (FQRDDAPAS). The angiogenic domain is required for EC adhesion and migration, capillary tube formation, and AKT activation. The deletion of the angiogenic domain eliminated the effects of AGGF1 on therapeutic angiogenesis and increased blood flow in a mouse model for peripheral artery disease. A 40-mer or 15-mer peptide containing the angiogenic domain blocks AGGF1 function, however, a 15-mer peptide containing a single amino acid mutation from −RDD- to −RGD- (a classical RGD integrin-binding motif) failed to block AGGF1 function. Conclusions: We have identified integrin α5β1 as an EC receptor for AGGF1 and a novel AGGF1-mediated signaling pathway of α5β1-FAK-Src-AKT for angiogenesis. Our results identify an FQRDDAPAS angiogenic domain of AGGF1 crucial for its interaction with α5β1 and signaling.

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Klippel–Trenaunay syndrome

Cited by 21 publications

References 9 publications

Klipplel-Trénaunay-Weber syndrome: A case report

Klipplel-Trénaunay-Weber syndrome: A case report

Klippel–Trénaunay syndrome associated with great saphenous vein aplasia

Receptor and Molecular Mechanism of AGGF1 Signaling in Endothelial Cell Functions and Angiogenesis

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