Continuing medical education
Diagnosis and management of extensive vascular malformations of the lower limb: Part I. Clinical diagnosis

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There is significant confusion in the literature when describing vascular anomalies, and vascular malformations are often misnamed or incorrectly classified. Part I of this two-part series on the diagnosis and management of extensive vascular malformations of the lower limbs will discuss the dermatologist’s role in the diagnosis of these lesions. At least nine types of vascular malformations with specific clinical and radiologic characteristics must be distinguished in the lower limbs: Klippel–Trénaunay syndrome, port-wine stain with or without hypertrophy, cutis marmorata telangiectatica congenita, macrocephaly–capillary malformation, Parkes Weber syndrome, Stewart–Bluefarb syndrome, venous malformation, glomuvenous malformation, and lymphatic malformation. This article highlights the differences in clinical appearance and discusses the differential diagnosis of extensive vascular malformations in an attempt to ensure earlier diagnosis and better outcomes for these patients.

Section snippets

Klippel–Trénaunay syndrome

Key points

  1. •

    Klippel–Trénaunay syndrome (KTS) is defined as a capillary malformation of the affected extremity, underlying bony and soft tissue hypertrophy, and varicose veins and/or venous malformation

  2. •

    KTS is the most representative example of combined vascular malformation. Some cases have genetic defects of the angiogenic factor VG5Q and RASA1 mutations

  3. •

    Clinically, there are two types of KTS: simple and complex. Simple KTS has a blotchy/segmental port-wine stain (PWS) and a better prognosis. Complex KTS

Conclusion

There is significant confusion in the literature when describing vascular anomalies and, not infrequently, vascular malformations are misnamed or incorrectly classified. A PWS with no other association is the most prevalent vascular malformation. Combined malformations are also frequent in the lower limbs, notably KTS. But not all vascular malformations of the lower limbs are related to KTS, and not all cases of KTS have the same clinical course. This article provides a guideline for

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      In our study, we found two patients with undergrowth of the affected limb (Fig 4), and we found it difficult to classify these patients with typical capillary, venous, and lymphatic malformation and limb undergrowth. We analyzed the medical literature available regarding this topic, and we found cases of growth reduction rather than increase in the affected body area, described by Danarti et al as inverse KTS.3,4,6,13,15,19 As a matter of fact, the undergrowth, understood as bone undergrowth, is a particular aspect usually shown in another disorder named Servelle-Martorell syndrome.20

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    Funding sources: None.

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