Parkes Weber Syndrome

Abstract

images in clinical medicineT h e ne w e ngl a nd jou r na l o f m e dicine n engl j med 371;22 nejm.org november 27, 2014 2114A 77-year-old woman was referred for evaluation of fingertip ulcers. She had arteriovenous malformation of the left arm (Panel A) that had been present since childhood. Physical examination revealed hypertrophy, with a giant arteriovenous malformation involving her fingers, forearm, elbow, and upper arm. The malformation was pulsatile, with dilated veins and arteries, and a palpable thrill. Small ulcerations were noted in the fingertips. There was no indication of cardiac failure. A magnetic resonance angiogram of the elbow, forearm, and hand (Panel B, dorsal view, three-dimensional, maximum-intensity projection) showed enlarged and tortuous arteries and veins, with several sites of aneurysmal dilatation throughout the imaged portion of the limb (Panel B, arrow) and multiple high-flow arteriovenous shunts. Parkes Weber syndrome consists of venous and capillary malformations and high-flow arteriovenous shunts, with overgrowth of the affected limb. Most cases are sporadic, although the syndrome may be inherited. Some cases are caused by mutations in RASA1. The syndrome rarely appears in the arm, particularly with this degree of vascular dilatation, which is presumably the result of lifelong evolution. It is more common for the legs to be affected. The patient did not want surgical treatment, and the ulcers are being managed with compressive therapy and local wound care.

Klippel–Trenaunay syndrome belongs to the PIK3CA‐related overgrowth spectrum (PROS)

“…While dermatologists traditionally recognize KTS as a distinct diagnostic entity characterized by the presence of the triad of manifestations, this syndrome has also been reported to be associated with hemimegalencephaly, seizures, developmental delay and digital abnormalities, such as polydactyly, macrodactyly and syndactyly . These observations indicate the presence of multisystem involvement with protean phenotypic manifestations, and specifically, these findings argue that rather than being a separate diagnostic entity, KTS belongs to a spectrum of disorders.…”

Parkes Weber syndrome—Diagnostic and management paradigms: A systematic review

“…Six (12.5%) cases had upper extremity affected. 13,18,41,44,45,48 PWS and high-output heart failure Fifteen (31.3%) cases had high-output heart failure due to significant AV shunting. 13,21,24,26,29,30,33,34,38,41,48,49 There was no significant gender predominance (female-male ratio: 1:1), whereas 10 (66.7%) cases 23 46/M Limb amputation with chemotherapy Two months after died from pulmonary and cerebral metastases Ismail et al 24 16/M Hip disarticulation under low-flow cardiopulmonary bypass…”