Klippel-Trenaunay syndrome associated with polydactyly

Abstract

Klippel-Trenaunay syndrome (KTS) manifests cutaneous vascular nevus, superficial venous varicosities, and hypertrophy of the affected limb. KTS may be associated with other developmental anomalies such as polydactyly, syndactyly, and macrocephaly. We present a case with KTS associated with polydactyly.

Klippel–Trenaunay syndrome: A multisystem disorder possibly resulting from a pathogenic gene for vascular and tissue overgrowth

“…Parkes‐Weber 3 subsequently reported a case involving an arteriovenous fistula of the affected extremity in 1918. Whether an arteriovenous fistula should be appended to the original triad that Klippel and Trenaunay described has been the topic of much debate because of the increased morbidity associated with an arteriovenous fistula 4–10 . However, Parkes–Weber syndrome is accepted as a separate entity consisting of the triad of KTS accompanied by an arteriovenous fistula 4–10 …”

Klippel–Trenaunay syndrome with rudimentary polydactyly

“…Diagnostic criteria of this syndrome are cutaneous vascular malformation (birthmark), superficial venous varicosity, and hyperplasia of soft tissue and bone of the affected limb . At least two of the three criteria must be seen for diagnosis . In our patient, all of the three criteria were present.…”

“…It is thought that mesodermal abnormalities during fetal development affect angiogenesis and lead maintenance of microscopic arteriovenous communications in the limb bud . .…”

“…Early diagnosis is important to avoid complications, such as thrombophlebitis, pulmonary embolism, stasis dermatitis, cutaneous ulcerations, and bleeding . Other abnormalities, such as polydactyly, syndactyly, clinodactyly, macrocephaly, megalencephaly, scoliosis, or spinal extradural meningeal cyst may be rarely associated with this syndrome . .…”

Klippel–Trénaunay Syndrome – A Very Rare and Interesting Syndrome

“…The associated developmental defects usually seen are various and include polydactyly,16 oligodactyly, macrocephaly, blue nevi, pulmonary vein varicosities, cerebral aneurysm,17 and pulmonary embolism 18…”