Vascular malformations

Sturge-Weber Syndrome

“…Laser treatment is also thought to reduce the long-term risk of soft and bony tissue hypertrophy and the attendant functional impairments related to swallowing, speaking, breathing, vision, and hearing [43]. The current method for lightening port-wine birthmarks is the flashlamp-pumped PDL, which targets the port-wine vasculature without affecting the surrounding epidermis or dermis [44]. While PDL can significantly lighten the majority of port-wine birthmarks, it is most effective when the birthmark is pink and flat, and thus when begun in infancy, and frequently requires maintenance treatments on an ongoing basis [45, 46].…”

“…Some port-wine birthmarks are “PDL resistant” and do not lighten with this current therapy [47]. For others, progressive lightening ends after six to ten treatments, so newer and more effective lasers are being researched to meet these needs [44]. Research is also underway to evaluate the combination of laser treatment with an mTOR inhibitor or other anti-angiogenesis agents and in the future this approach may provide more effective management [48*].…”

A rare presentation of Klippel-Trenaunay syndrome

“…Later studies conducted by Happle suggest that the inheritance of a single abnormal gene could explain the development of this syndrome, as well as the occurrence of sporadic and familial cases. [34] Although KTS is a sporadic condition, studies report familial cases of KTS that have not been inherited in a Mendelian pattern, suggesting a multifactorial inheritance.…”

Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations

“…The most common manifestation, present in 98% of patients, is capillary malformation, which is represented by cutaneous hemangiomas or a port-wine stain [29, 36]. These lesions usually affect the hypertrophied limb, and when they occur in the trunk region, they rarely cross the midline [29, 37–39]. Varicose veins are also present in most patients with Klippel-Trenaunay-Weber syndrome, and they are more evident during adolescence and affect both the superficial and deep venous systems [26, 29].…”