Diagnosis and management of AVMs by a multidisciplinary approach that integrates surgical therapy with embolism and sclerotherapy appears to improve the results and management with limited morbidity and no recurrence during early follow-up.

The marginal vein, an abnormal superficial vein of the lateral lower limb, is a remnant of primitive embryonic vessels that have failed to regress. According to the extent, topography and sites of connection with the deep veins, five types have been distinguished by Weber. The marginal vein is valveless and may create venous stasis. Limb-length discrepancy and nevus may coexist. Diagnosis is made by duplex scan examination and phlebography; angio computerized tomography or magnetic resonance effectively demonstrates the vein but yield less haemodynamic data. The best treatment is complete surgical resection of the vein. Resection should be avoided in the rare cases when aplasia of the deep veins exists. A careful skeletonization can be performed if arterio-venous fistulas converge into the vein.

Syndromes with lymphatic malformations show phenotypic variability within the same entity, clinical features that overlap between different conditions and allelic as well as heterogeneity. The aim of this review is to provide a comprehensive clinical genetic description of lymphatic malformations and the techniques used for their diagnosis, and to propose a flowchart for genetic testing. Literature and database searches were performed to find conditions characterised by lymphatic malformations or the predisposition to lymphedema after surgery, to identify the associated genes and to find the guidelines and genetic tests currently used for the molecular diagnosis of these disorders. This search allowed us to identify several syndromes with lymphatic malformations that are characterised by a great heterogeneity of phenotypes, alleles and, and a high frequency of sporadic cases, which may be associated with somatic mutations. For these disorders, we found many diagnostic tests, an absence of harmonic guidelines for molecular diagnosis and well-established clinical guidelines. Targeted sequencing is the preferred method for the molecular diagnosis of lymphatic malformations. These techniques are easy to implement and have a good diagnostic success rates. In addition, they are relatively inexpensive and permit parallel analysis of all known disease-associated genes. The targeted sequencing approach has improved the diagnostic process, giving patients access to better treatment and, potentially, to therapy personalised to their genetic profiles. These new techniques will also facilitate the prenatal and early postnatal diagnosis of congenital lymphatic conditions and the possibility of early intervention.

Congenital vascular bone syndrome (CVBS) is an abnormal enhancement or reduction of growth in long bones due to pathologic circulation during childhood. Several authors have described these clinical pictures with limb lengthening; well known are Klippel and Trenaunay and Parkes-Weber. Later, Servelle and Martorell also described cases of limb length difference, but with shortening of the pathologic limb. The mechanism of limb overgrowth is probably due to the effect of A-V shunts, while shortening occurs due to mechanical compression on bones by dysplastic vessels or flow reduction. Some molecules, like vascular endothelial growth factor and others, probably affect bone growth through a poorly understood mechanism. Diagnostically, one should try to demonstrate A-V shunts around or inside the bone or low flow vascular mass. Correction of length differences can occur spontaneously if the cause of CVBS is treated in childhood. In adults, limb length differences may be corrected by orthopaedic techniques.