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Background. Although many articles on perforating veins have been published, much knowledge about these veins is lacking. Objective. In this review relevant facts about the clinical importance of perforating veins in venous disease are described. Methods. A literature search on English, French and German articles has been performed using literature databases like Medline, Embase and Cochrane. Results. Selection criteria are described. Conclusion. A few conclusions are drawn: incompetent perforating veins can be of haemodynamic importance, especially in venous ulceration and (recurrent) varicose veins. The current definition of incompetent perforating veins is reflux more than 0,5 seconds (detected by Duplex ultra‐sonography). Good anatomical and clinical classifications are published and should be integrated in the CEAP classification. Based on the clinical classification treatment options are described for the different types of incompetent perforating veins. Two different treatment modalities for incompetent perforating veins are surgery (SEPS) and sclerotherapy. SEPS seems to be of benefit in patients with venous ulceration and advanced CVI. Sclero‐therapy (especially ultra sound guided sclerotherapy) is promising and worth further evaluation.

Gap junctions, which consist of connexins, are intercellular channels that mediate rapid intercellular communication. In the skin, connexins are involved in the regulation of epidermal growth and differentiation. GJB2 encodes connexin26, which is an important skin-expressed gap junction protein. Mutations in GJB2 cause a wide variety of unique disorders, but despite extensive research, their mechanisms of action are poorly understood. The identification of novel diseases caused by mutations in GJB2 may help to illuminate the genotype-phenotype correlation and elucidate the function of different regions of the protein. Here, we report the first account of a family with a GJB2 missense mutation in the second extracellular domain (p.Ser183Phe) that causes skin abnormalities in addition to sensorineural hearing loss. Using fluorescent connexin26-EGFP fusion proteins, we showed that the mutation induces a partial protein transport defect that cannot be rescued by wild-type protein. Dye-transfer experiments using a parachute assay revealed channel functionality. Although p.Ser183Phe affects the second extracellular domain, mutations in the first extracellular domain also lead to focal palmoplantar keratoderma and likewise perturb protein transport in a dominant-negative manner. Therefore, we hypothesize that focal palmoplantar keratoderma in gap junction skin disease may be specifically associated with connexin trafficking defects as well as with mutations affecting its extracellular domains, thus broadening the spectrum of GJB2-associated diseases.

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This proximal incompetent perforating vein was important for the development and maintenance of the varicose vein. Treatment of this incompetent perforating vein resulted in complete disappearance of the reflux in the varicose vein. In this case ultrasound-guided sclerotherapy was successful in treating the incompetent perforating vein. More studies are needed to investigate the long-term effect of ultrasound-guided sclerotherapy as treatment of perforans-varicosis.