Klippel-Trénaunay Syndrome: Spectrum and Management

Jacob, Anila G.; Driscoll, David J.; Shaughnessy, William J.; Stanson, Anthony W.; Clay, Ricky P.; Gloviczki, Péter

doi:10.1016/s0025-6196(11)63615-x

Cited by 453 publications

(406 citation statements)

References 18 publications

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“…KTS (MIM 149000) [45][46][47][48] is defined as a congenital vascular disorder comprised of (i) capillary malformations, (ii) venous malformations or extensive distribution and early onset of the varicose veins, and (iii) hypertrophy of the affected tissues. Lymphatic malformations also occur in some KTS patients (11% of cases).…”

Section: Clinical Features Of Ktsmentioning

confidence: 99%

“…Lymphatic malformations also occur in some KTS patients (11% of cases). The presence of two of the three cardinal features is sufficient to make a KTS diagnosis [47]. Figure 1 shows some features with which the KTS patients typically present.…”

Section: Clinical Features Of Ktsmentioning

confidence: 99%

“…Significant arteriovenous fistulae do not occur in KTS [49]. Capillary malformations (CMs, also known as portwine stains) are the most common cutaneous vascular malformation in KTS, and occur in 98% of KTS patients [47].…”

Section: Clinical Features Of Ktsmentioning

confidence: 99%

“…The walls of the capillaries are thin, and the ECs are flat [44]. [47]. Lymphatic malformations are a defect of cutaneous and subcutaneous lymphatic vessels.…”

Section: Clinical Features Of Ktsmentioning

confidence: 99%

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Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis

Timur

Driscoll

Wang

2005

CMLS, Cell. Mol. Life Sci.

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Vascular morphogenesis is a vital process for embryonic development, normal physiologic conditions (e.g. wound healing) and pathological processes (e.g. atherosclerosis, cancer). Genetic studies of vascular anomalies have led to identification of critical genes involved in vascular morphogenesis. A susceptibility gene, VG5Q (formally named AGGF1), was cloned for Klippel-Trenaunay syndrome (KTS). AGGF1 encodes a potent angiogenic factor, and KTS-associated mutations enhance angiogenic activity of AGGF1, defining 'increased angiogenesis' as one molecular mechanism for the pathogenesis of KTS. Similar studies have identified other genes involved in vascular anomalies as important genes for vascular morphogenesis, including TIE2, VEGFR-3, RASA1, KRIT1, MGC4607, PDCD10, glomulin, FOXC2, NEMO, SOX18, ENG, ACVRLK1, MADH4, NDP, TIMP3, Notch3, COL3A1 and PTEN. Future studies of vascular anomaly genes will provide insights into the molecular mechanisms for vascular morphogenesis, and may lead to the development of therapeutic strategies for treating these and other angiogenesis-related diseases, including coronary artery disease and cancer.

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Section: Clinical Features Of Ktsmentioning

confidence: 99%

Section: Clinical Features Of Ktsmentioning

confidence: 99%

Section: Clinical Features Of Ktsmentioning

confidence: 99%

“…The walls of the capillaries are thin, and the ECs are flat [44]. [47]. Lymphatic malformations are a defect of cutaneous and subcutaneous lymphatic vessels.…”

Section: Clinical Features Of Ktsmentioning

confidence: 99%

See 2 more Smart Citations

Biomedicine and diseases: the Klippel-Trenaunay syndrome, vascular anomalies and vascular morphogenesis

Timur

Driscoll

Wang

2005

CMLS, Cell. Mol. Life Sci.

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show abstract

“…Häufige Komplikationen sind Blutungen, rezidivierende Lymphangitiden, Venenentzündungen und tiefe Beinvenenthrombose, selten kommt es zu Lungenembolien [9]. Aufgrund ihrer Komplexität ist diese Fehlbildung nur bedingt einer chirurgischen Therapie zugänglich.…”

Section: Hemiparese Und Atemnot Bei Einer 15-jährigen Betroffenenunclassified