Klippel-Trenaunay syndrome belongs to the PIK3CA-related overgrowth spectrum (PROS).

Klippel-Trenaunay syndrome (KTS), originally described as a triad of cutaneous capillary malformation, bone and soft-tissue hypertrophy, as well as venous and lymphatic malformations, has been considered by dermatologists as a distinct diagnostic entity. However, cases with KTS have also been reported to have neurological disorders, developmental delay and digital abnormalities, indicating multisystem involvement. Recently, a number of overgrowth syndromes, with overlapping phenotypic features with KTS, have been identified; these include MCAP and CLOVES syndromes as well as fibroadipose hyperplasia. These conditions harbour mutations in the PIK3CA gene, and they have been included in the PIK3CA-related overgrowth spectrum (PROS). Based on recent demonstrations of PIK3CA mutations also in KTS, it appears that, rather than being a distinct diagnostic entity, KTS belongs to PROS. These observations have potential diagnostic and therapeutic implications for KTS.

Capillary-venous malformation in the lower limb.

Regional capillary malformation of a lower extremity is associated with the overgrowth of bone or soft tissue in several disorders, most commonly Klippel-Trenaunay syndrome and Parkes Weber syndrome. We have observed a subset of patients with a capillary malformation of the leg, minor growth disturbance, and prominent veins. The objective of the current study is to describe a series of patients with regional capillary malformation of the lower extremity in association with phlebectasia. This is a retrospective series of 17 patients diagnosed with capillary-venous malformation of the lower extremity. We excluded patients with clinical or radiographic evidence of lymphatic or arteriovenous malformation. Age, presentation, associated features, radiographic findings, and management were documented. In most patients the capillary malformation covered a large area without sharply demarcated borders. Four patients had one or more discrete, well-defined capillary stains involving less than 5% of the total surface area of the affected lower limb. Prominent veins were most common in the popliteal fossa and on the knee and dorsal foot. Approximately two-thirds of patients had a leg length discrepancy, with the affected leg being longer (n = 6) or shorter (n = 4); in many the affected leg was also slightly larger (n = 8) or smaller (n = 4) in girth. Radiographic imaging showed dilatation of superficial (n = 16), muscular (n = 9), and deep veins (n = 6). We characterize a subset of patients with regional capillary-venous malformation of the lower extremity with prominent veins and minor hypotrophy/hypertrophy that differs from Klippel-Trenaunay syndrome (capillary-lymphatic-venous malformation) but belongs at the minor end of the spectrum of vascular disorders with overgrowth.

Primary lymphoedema and lymphatic malformation: are they the two sides of the same coin?

OBJECTIVES: To clear the confusion regarding the relationship between the 'primary lymphoedema' and (truncular) lymphatic malformation (LM); the latter is one of congenital vascular malformations. MATERIALS & METHODS: A literature review was carried out on the primary lymphoedema either existing as an independent LM lesion or as a component of the Klippel-Trenaunay syndrome. RESULTS: The review was able to provide a contemporary guide/conclusion on the definition and classification, clinical evaluation and clinical management regarding conservative (physical) therapy, reconstructive surgical therapy and ablative/excisional surgical therapy, for the primary lymphoedema as an LM. CONCLUSIONS: Primary lymphoedema can be considered as 'congenital' since its majority represents a clinical manifestation of the truncular type of LM arising during the later stages of lymphangiogenesis. Such embryological staging information of the LM is critical for proper management of the primary lymphoedema when it exists with other congenital vascular malformations (Klippel-Trenaunay syndrome). 2. Basic non-invasive to minimally invasive tests will provide an adequate diagnosis and lead to the correct multidisciplinary, specifically targeted and sequenced treatment strategy. 3. The mainstay of current management of the primary lymphoedema/truncular LM is complex decongestive therapy; and the reconstructive as well as ablative surgical therapy remain adjunctive therapies at best.

[Vascular malformations (I). Concept, classification, pathogenesis and clinical features]. / Malformaciones vasculares (I). Concepto, clasificación, fisiopatogenia y manifestaciones clínicas.

Vascular malformations are anomalies always present at birth that, contrary to hemangiomas, never regress and may grow during lifetime. Clinical presentation of vascular malformations is extremely variable and ranges from asymptomatic spots of mere aesthetic concern to lesions with high blood flow or located in critical sites that may be life-threatening. Given the low incidence of these disorders it is difficult to establish therapeutic guidelines. In addition to a correct classification of vascular anomalies, it is necessary a multidisciplinary approach for the follow-up and management of these patients. The first part of this review focuses on the different classifications of vascular anomalies, maintaining as reference the one proposed by the International Society for the Study of Vascular Anomalies (ISSVA). Additionally, clinical features of the different subtypes of vascular anomalies as well as their association in certain syndromes are reviewed.

Terminology and classification of congenital vascular malformations.

Venous malformation (VM) is a congenital vascular malformation (CVM) that develops along the venous system through the various stages of embryogenesis. Older terminology and classification were often misleading and confusing. A newer classification system has emerged that is based on advances in the study of these conditions and is useful in contemporary management. The Hamburg classification was introduced after reappraisal of older terminology and has become the standard system for contemporary classification, which is based on anatomical, pathological and embryological criteria.

Klippel-Trenaunay syndrome and Sturge-Weber syndrome: variations on a theme?

We describe a patient with a complex neurocutaneous syndrome of congenital vascular malformations, abnormalities of brain and bones, and soft tissue hypertrophy of one leg. According to eponymous classification schemes, the patient can be assigned to two different clinical entities. Using the lethal gene theory it is possible to unify these different syndromes and to explain the overlap and diversity of these congenital vascular syndromes. We argue that it is better to describe such vascular malformation syndromes in anatomical/histological or functional terms and map the extent of the disease, rather than name it according to the eponymous classification.

Síndrome de Parkes Weber / Parkes Weber Syndrome

Se presenta el caso de un niño de 15 años de edad con malformaciones cutáneas capilares en una extremidad, hipertrofia del miembro, presencia de malformación arteriovenosa profunda: alteraciones características del síndrome de Parkes Weber

Klippel-Trenaunay syndrome: orthopaedic considerations.

Klippel-Trenaunay syndrome is a rare congenital malformation characterized by a large angiomatous nevus, hypertrophy of soft tissue and/or overgrowth of bone, and venous varicosities. Orthopaedic surgeons are often consulted about limb hypertrophy and associated leg-length inequality, associated finger and toe anomalies, or a myriad of associated rare skeletal abnormalities. Orthopaedists must be aware of the intricacies of this syndrome and of its proper evaluation and treatment. The diagnosis, classification, etiology, and treatment of Klippel-Trenaunay syndrome are summarized in this review.

[The clinical feature and angiographic diagnosis in Klippel-Trenaunay syndrome].

Eight cases (9 limbs including 8 lower extremities and 1 upper extremity) of the Klippel-Trenaunay Syndrome (KTS) are reported Among 8 cases, 7 cases were proved by surgery KTS is basically a sort of congenital venous dysplasia including venous atresia, aplasia, valvular anomalies, and external compression by a fibrovascular band or surrounded by a fibrous sheath. The basic clinical triad (vascular nevus, varicosities and limb hypertrophy) suggests the characteristic clinical diagnosis. KTS may be divided into four types. Orthodromic, deep venography is the most important examination in diagnosing KTS. Selective arteriography and direct puncture venography may be also used if necessary. The clinical features, angiographic characteristics, surgical problems, and the nomenclature, type and differential diagnosis of KTS were discussed.

The syndrome of Klippel-Trenaunay, a polyvalent angiodysplasia.

The syndrome of Klippel and Trenaunay remains basically a venous angiodysplasia. Newer investigative methods have however allowed us to distinguish a polyvalence of the vascular morphology. The basic clinical triad: vascular nevus, varicosities and limb hypertrophy remains the main clinical diagnostic characteristic.

[Klippel-Trenaunay, syndrome or disease]. / Klippel-Trenaunay, syndrome ou maladie.

Two cases which were clinically typical of the Klippel Trenaunay syndrome and in which the integrity of the deep venous system demonstrated by phlebography form the basis for the author's discussion of the various theories and classifications which have been put forward up to now. The authors favour Schobinger's opinion, according to which three varieties of the Klippel Trenaunay syndrome are recognised. Malan's anatomoclinical classification has been adopted : this permits the grouping together of the numerous variations possible in this type of dysplasia.