[Klippel-Trénaunay-Weber syndrome]

Area of Science:

• Vascular Surgery
• Pediatric Cardiology
• Clinical Case Reports

Background:

• Klippel-Trénaunay Weber Syndrome (KTWS) is a rare congenital disorder characterized by the triad of vascular malformations, soft tissue hypertrophy, and skeletal abnormalities.
• It is a complex condition affecting blood vessels, lymphatic system, and bones, often presenting with significant clinical manifestations.

Observation:

• A 12-year-old female patient presented with congenital flat angiomas on her lower limbs, progressively enlarging with growth.
• Clinical examination revealed marble skin (cutis marmorata) and telangiectatic edema, predominantly affecting the left lower limb, causing asymmetry.
• No internal organ involvement or other minor signs of the syndrome were noted in the patient or her family history.

Findings:

• The patient was diagnosed with Klippel-Trénaunay Weber Syndrome based on the characteristic clinical features.
• The absence of internal angiomas and a negative family history are notable aspects of this case presentation.
• The progressive nature of the limb angiomas correlated with the patient's somatic growth.

Implications:

• This case underscores the importance of early diagnosis and multidisciplinary management for Klippel-Trénaunay Weber Syndrome.
• Understanding the phenotypic variability is crucial for accurate diagnosis and prognosis in pediatric vascular anomalies.
• Further research into the genetic and molecular basis of KTWS may elucidate novel therapeutic targets.