Klippel-Trenaunay syndrome

Cohen, M. Michael

doi:10.1002/1096-8628(20000731)93:3<171::aid-ajmg1>3.0.co;2-k

Cited by 157 publications

(115 citation statements)

References 25 publications

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“…Milroy syndrome may also come into the differential diagnosis if surface vascular lesion i.e. port-wine stain is minimal, however, port-wine stains were widely distributed in this case which was contrary to Milroy syndrome [1]. This case was clinically diagnosed as a case of Klippel-Trenaunay-Weber syndrome and was given supportive treatment.…”

Section: Discussionmentioning

confidence: 76%

“…These vascular malformations consist of mature dilated dermal capillaries.2 These lesions are macular, sharply circumscribed, pink to purple in color and tremendously variable in size.2 Port-wine stains can occur as a component of Klippel-Trenaunay-Weber Syndrome associated with soft tissue enlargement (i.e. hypertrophy of an extremity or a part of it) [1]. In this syndrome, the vascular malformation generally localized to the hypertrophied area [5]; in this case, the both lower limbs are hypertrophied and stained with port-wine stains which was extending onto the trunk which is consistent with the other study [5,6].…”

Section: Discussionmentioning

confidence: 99%

“…Klippel-Trenaunay-Weber syndrome is a rare congenital vascular anomaly characterized by a triad of port-wine stain, varicose veins, and bony and soft tissue hypertrophy involving an extremity [1]. Mostly, it is idiopathic in origin; however, …”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Congenital Vascular Anomalies: A Case Report

Mir¹,

Wani²,

Shirazi³

2015

JPNC

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Section: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Congenital Vascular Anomalies: A Case Report

Mir¹,

Wani²,

Shirazi³

2015

JPNC

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“…Improper terminology can lead to the wrong diagnosis, mistreatment, and misdirected research efforts. 5 In conclusion, we appreciate Schumacher's comments on our article, but we strongly disagree with the assertion that an association between KTS and spinal AVM has been unquestionably proved. The historical temptation to diagnose any large extremity with a vascular lesion as KTS is a common fundamental diagnostic fallacy and should be curtailed.…”

mentioning

confidence: 73%

Reply:

Alomari¹,

Orbach²,

Mulliken³

et al. 2011

AJNR Am J Neuroradiol

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We thank Dr. Schumacher for his interest and comments on our article entitled "Klippel-Trenaunay Syndrome and Spinal Arteriovenous Malformations: An Erroneous Association."1 What is not surprising, and as we stated in the article, Klippel-Trenaunay syndrome (KTS) is still a field rife with controversy and disagreement. In his letter to the editor, Dr Schumacher made some valuable comments about KTS. However, we would like to take this opportunity to respond to some of the assertions with which we disagree. There is no doubt that the diagnosis of overgrowth syndrome can be challenging, particularly when vascular anomalies are also present. Several factors (including the rarity of these diseases, the complexity of the clinical features, and some overlap between these conditions) lead to the diagnostic inaccuracy commonly noted in the published literature. 2The assertion by Dr Schumacher that "the statement capability of a meta-analysis . . . appears overtaxed" does not apply to our article. The analysis of the published cases of presumed KTS and spinal arteriovenous malformation (AVM) was a critical systematic review, not a meta-analysis. Meta-analysis, as defined by the Cochrane Collaboration, refers to statistical techniques in a systematic review to integrate the results of included studies; it should not be misused as a synonym for systematic reviews. 3Regarding the lack of clinical and radiologic evidence of KTS and spinal AVM in the cohort of the Vascular Anomalies Center at Children's Hospital Boston, we unreservedly agree with Dr Schumacher that including these data to support the theory of our article leaves unanswered questions. Nevertheless, the objective of the article was neither to prove a negative through inductive reasoning (ie, lack of this association in nature) nor to present incontrovertible evidence. We rather opted specifically to disprove the presence of positive evidence of such an association. We were cognizant not to claim infallibility in this work. The onus lies with the authors who report such an association to prove that their patients do have KTS and not any other vascular condition.Regardless of whether one adopts a "lumper" or "splitter" approach to these disorders, it is imperative not to disregard the advances in knowledge in vascular anomalies. Defining KTS as a combination of slow-flow vascular malformations (capillary, lymphatic, and venous) in an overgrown limb 4 allows for better understanding of the disease, for distinction from other disorders and for the emergence of newly described syndromes. The result of such careful diagnosis is that many patients who initially had the diagnosis of KTS turned out to have other conditions such as CLOVES syndrome, capillary malformation-AVM, isolated phlebectasia, extensive venous malformation, capillary malformation with overgrowth, combined vascular anomalies, Parkes-Weber syndrome (PWS), and so forth. These disorders have distinct clinical and imaging features, though unfortunately, the published literature still commonly lumps many ...

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“…The deep veins may be involved and the defects of deep veins include agenesis, atresia, hypoplasia, vascular incompe-tence, aneurismal dilatation (Fig 2). Arteriovenous malformation are not seen and in presence of such high flow lesion a label of Park Weber syndrome is given as suggested by Cohen, Jr (2000). Presence of involvement of face and leptomeninges is characteristic of Sturge Weber syndrome.…”

Section: Phenotype and Clinicsmentioning

confidence: 99%