Inverse Klippel-Trenaunay Syndrome

Santino, Mariana Franco Ferraz; Lopes, Maria João Paiva

doi:10.1590/1984-0462/2020/38/2020091

Cited by 4 publications

(5 citation statements)

References 4 publications

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“…There is a variant of this condition documented in medical literature featuring port-wine stains and venous malformations associated with limb shortening as opposed to lengthening as observed in KTS. This is possibly a variant of KTS and it has been referred to as ‘inverse Klippel-Trenaunay syndrome’ by several studies 3–7. This report details two cases that exhibit similar clinical patterns, contributing to the understanding of this rare condition.…”

Section: Introductionmentioning

confidence: 73%

“…A closer examination of the cases analysed by Danarti et al , along with the more recent case reports of 'inverse KTS,' reveals a broad spectrum of clinical manifestations with respect to the underdevelopment of the affected limb 3–7. While some patients exhibit only hypotrophy of subcutaneous or adipose tissue, others experience a combination of soft tissue and bone hypotrophy, leading to notable differences in limb and foot length and substantial morbidity.…”

Section: Discussionmentioning

confidence: 99%

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Klippel-Trenaunay syndrome or not? An exploration of atypical presentations

Anthony,

Bayat

2024

BMJ Case Rep

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Klippel-Trenaunay syndrome (KTS) is a rare, congenital disorder typically emerging in early infancy or childhood. The classic presentation of KTS is distinguished by a triad of clinical features: a port-wine stain, early-onset varicosities and limb overgrowth. However, a notable variant of KTS has been documented, characterised by limb shortening rather than lengthening, occasionally referred to as 'inverse KTS'. This report details two cases that display this unusual presentation—both patients had classical features of port-wine stain and varicose veins but both experienced shortening of the affected limb. Whether these cases represent a variant of KTS or a new clinical syndrome altogether is uncertain. They however offer valuable insights into the nuances and breadth of clinical manifestations associated with this syndrome.

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Section: Introductionmentioning

confidence: 73%

Section: Discussionmentioning

confidence: 99%

Klippel-Trenaunay syndrome or not? An exploration of atypical presentations

Anthony,

Bayat

2024

BMJ Case Rep

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“…The arms are less frequently affected, and bilateral involvement has been uncommonly reported. Notable deficient growth of the affected limb may be also noted (“inverse KTS”) [ 5 , 18 ].…”

Section: Discussionmentioning

confidence: 99%

“…Inverse KTS is a rare disorder in which the capillary and venous malformations are associated in contrast with classical KTS, with hypotrophy or shortening of the affected limb. The hypotrophy may involve bones, muscles, or subcutaneous tissues [ 5 , 18 , 19 ]. Danarti et al [ 20 ] collected 14 cases from the literature and proposed the term “inverse KTS”.…”

Section: Discussionmentioning

confidence: 99%

Klippel–Trenaunay Syndrome, Segmental/Focal Overgrowth Malformations: A Review

Pavone,

Marino,

Cacciaguerra

et al. 2023

Children

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Klippel–Trenaunay syndrome is an uncommon, infrequent, congenital disorder characterized by a triad of capillary malformation, varicosities, and tissue and bone hypertrophy. The presence of two of these three signs is enough to obtain the diagnosis. Capillary malformations are usually present at birth, whereas venous varicosities and limb hypertrophy become more evident later. The syndrome has usually a benign course, but serious complications involving various organs, such as gastrointestinal and genitourinary organs, as well as the central nervous system, may be observed. Recently, Klippel–Trenaunay syndrome has been included in the group of PIK3CA-related overgrowth spectrum (PROS) disorders. In terms of this disorder, new results in etiopathogenesis and in modalities of treatment have been advanced. We report here a review of the recent genetic findings, the main clinical characteristics and related severe complications, differential diagnoses with a similar disorder, and the management of patients with this complex and uncommon syndrome.

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“…These signs eliminated the PWS and KTS as the differential diagnosis. Earlier, there were a few articles that proposed the concept of ‘inverse KTS’ that showed features of limb shortening instead of lengthening [ 7 ]. Despite the newly proposed inverse KTS, the signs and symptoms of our patient were more likely to lead to SMS which has been classified by ISSVA [ 2 ].…”

Section: Discussionmentioning

confidence: 99%