Servelle-Martorell syndrome with extensive upper limb involvement: a case report

Abstract

IntroductionAngio-osteohypotrophic syndrome is also known as Servelle-Martorell angiodysplasia. It is characterized by venous or, rarely, arterial malformations, which may result in limb hypertrophy and bony hypoplasia. Extensive involvement of the upper limb is a rare feature of Servelle-Martorell syndrome. Cases with minimal upper limb involvement have been described in the literature.Case presentationA young man presented with multiple separate swollen areas over the right upper limb and functional difficulty since birth. The arm muscles and muscles of the limb girdle were atrophic. The forearm and hand bones were hypoplastic and tender.ConclusionWe report a case of Servelle-Martorell syndrome with extensive involvement of the entire upper limb and periscapular region. Servelle-Martorell syndrome is highlighted as one of the causes of angiodysplastic limb hypertrophy.

Klippel‐Trenaunay syndromein a boy with concomitant ipsilateral overgrowth and undergrowth

“…Limb overgrowth associated with venous or, rarely arterial malformations are the primary signs of the Servelle‐Martorell syndrome (SMS), also known as “angio‐osteo‐hypotrophic syndrome” [Karuppal et al, ]. In this disease, limb overgrowth is associated with bone undergrowth.…”

Cervical dural arteriovenous malformation and large epidural venous varices in a rare adult presentation of congenital vascular bone syndrome

“…Servelle in the 1940s and 1950s described 80 cases of Klippel-Trenaunay syndrome, of which fibrous bands or aberrant arteries were found to compress deep venous channels resulting in varicosity in 79 of the patients; however, in one deviant case, no obstructing lesion was present and instead agenesis was present [3]. His research in combination with that of Martorell was later felt to potentiate a third clinical entity characterized by limb hypertrophy, varicose veins, and capillary malformations but osseous hypotrophy and limb foreshortening [4,5].…”

Servelle-Martorell Syndrome

“…The ectatic and aneurysmal dilatation of the superficial venous channels in Servelle-Martorell syndrome may lead to a monstrous deformity of the extremity [1,3]. An abnormal vein location, partial or complete lack of valves, and/or venous hypoplasia or aplasia has been observed in the deep venous system [2,5].…”

“…Pathophysiology involves partial or complete lack of valves in the deep venous system, intra-osseous vascular malformations due to the destruction of spongiosa and cortical bone joint destruction due to intra-osseous vascular ectasias. Plain X-ray may demonstrate multiple soft-tissue swellings, multiple phleboliths in the ectatic venous system and hypoplasia of the bones [1][2][3][4].…”