Klippel‐Trenaunay syndromein a boy with concomitant ipsilateral overgrowth and undergrowth

Abstract

Klippel-Trenaunay syndrome comprises congenital vascular malformations of the capillary (nevus flammeus), venous (varicosities) or lymphatic systems and disturbed (usually over-) growth of one or more extremities and adjacent parts of the trunk. In some individuals the affected body area may show reduced rather than increased growth. Such patients have been described inverse Klippel-Trenaunay syndrome and included within the spectrum of the syndrome. We report on a 3-year-old boy with vascular malformation of the nevus flammeus type extending from the right buttock to the sole of the right foot with clinical and radiological evidence of leg varicosities and underlying deficiency of the soft tissues and bone. In addition, he had macrodactyly of the first, second, and third toes with small nails, and cutaneous syndactyly of the second and third toes of the ipsilateral foot. Cranial magnetic resonance imaging showed high signal lesions in the peritrigonal areas with normal spinal images. This mosaic phenotype demonstrates that decreased and increased growth can coexist in the same body area of an individual with Klippel-Trenaunay syndrome.

Clinical and genetic evaluation of six children with diffuse capillary malformation and undergrowth

“…Prominent superficial veins and soft‐tissue undergrowth are also described in some CMTC patients 12 . Even though soft‐tissue and bone overgrowth is most commonly described in KTS, some cases with soft‐tissue and bony undergrowth have been reported and denominated as inverse KTS 8,11,14‐17 . Inverse KTS presents with characteristic geographic CMs.…”

“…In many instances, superficial lymphatic vesicles develop over time and venous anomalies of the involved limb become evident. However, there is considerable confusion in nomenclature and the term KTS has also been applied to patients with blotchy segmental light red to pink stains, 13,14 which would be indistinguishable from the CMs of DCMU. We prefer to restrict the term KTS to cases where there is a CM, lymphatic malformations and persistent embryologic veins or deep venous anomalies, because these patients are at risk for thrombosis or lymphedema, whereas patients with DCMO or DCMU do not seem to present with these complications.…”

Macrodactyly in tuberous sclerosis complex: Case report and review of the literature

“…Recently, it has been demonstrated that Sturge-Weber syndrome is caused by somatic activating mutations in the GNAQ gene, involved in intracellular signal transduction for cell proliferation [Shirley et al, 2013]. Macrodactyly has also been described in association with Klippel-Trenaunay-Weber syndrome [McGrory et al, 1991;Redondo et al, 2009;Ruggieri et al, 2014], which, in turn, has been described concomitantly with TSC in the same individual [Troost et al, 1975]. Klippel-TrenaunayWeber syndrome is characterized by the presence of localized congenital vascular malformations and disturbed growth of bone or soft tissue [Oduber et al, 2008] and its molecular etiology is still not fully understood, although somatic mosaicism for…”

Genetic syndromes with vascular malformations – update on molecular background and diagnostics

“…Lower limbs are usually affected. The coincidence of upper and lower extremity involvement may occur in 10% to 15% of cases and is usually ipsilateral [206]. The VMs affect the entire limb and commonly are present from infancy.…”