Klippel-Trenaunay Syndrome With Atypical Presentation of Small Port-Wine Stain

Abstract

Klippel-Trenaunay Syndrome (KTS) is a rare congenital capillary/venous malformation (CVM) disorder associated with deep soft-tissue swelling. A seven-year-old Caucasian male with a history of Klippel-Trenaunay Syndrome presented to the dermatology clinic for evaluation and treatment of mildly edematous right lower extremity and varicose veins with multiple, small port-wine stains and nodules. Typically, cases of KTS report large port-wine stains, where a multidisciplinary approach is the mainstay for management. However, this case involves a clinical presentation of mild KTS with atypical, small port-wine stains on the affected limb.

Large birth mark and unilateral swelling of the lower extremity in a young teenager

“…The patient had clear right lower extremity hemihypertrophy and an overlying vascular anomaly. The port-wine stain solely overlying the hypertrophic limb is reflected in many case studies reviewed,23–26 though port-wine stains can also overly neighbouring and/or remote skin regions 27 28. The patient did not have clear evidence of venous malformations, often presenting as superficial varicosities, which were present in all but one teenage patient case study reviewed 23 29–31.…”

“…Rare instances of seizures and/or digital anomalies can be seen with KTS (which can be related to a concurrent diagnosis of Sturge-Weber),27 28 32–34 but these were not present in the patient. For uncomplicated KTS, therapeutic compression and orthotics, interventions the patient received, are common 23 25 30 35. Laser ablation has infrequently been used to treat port-wine stains in children with KTS,25 though this is not the standard of care.…”

“…For uncomplicated KTS, therapeutic compression and orthotics, interventions the patient received, are common 23 25 30 35. Laser ablation has infrequently been used to treat port-wine stains in children with KTS,25 though this is not the standard of care.…”

Klippel–Trénaunay syndrome with profound abdominal lymphangiohemangioma in a three-day- old newborn: A case report and literature review

“…In addition, laser therapy is used to reduce the port-wine stains. All these management approaches are primarily symptomatic treatment and prevent further complications [7]. Prognosis depends on the severity of the malformations and associated anomalies.…”

Lower extremity venous thermoablation in a patient with Klippel-Trénaunay syndrome

“…Dada la diversidad de problemas a los que se enfrenta un paciente con SKT, que van desde una postura anormal hasta trastornos psicológicos, el abordaje terapéutico requirió un enfoque multidisciplinario, además la intervención quirúrgica, e intervención psicológica, ya que la asimetría en los miembros inferiores generó un gran impacto a nivel psicosocial en la paciente. La resolución quirúrgica mejoró el edema del pie, mientras que el apoyo ortopédico con uso de elevador de zapatos permitió abordar la discrepancia leve en la longitud de la pierna (10).…”