Karwacki, Grzegorz

Niemann, Tilo

Studler, Ueli

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TEST YOURSELF: ANSWERChronic middle foot pain in a patient with a swollen leg:diagnosis and discussionGrzegorz Marek Karwacki & Ueli Studler &Tilo NiemannReceived: 10 May 2011 /Revised: 29 June 2011 /Accepted: 4 July 2011 /Published online: 9 August 2011# ISS 2011AnswerDiagnosisInsufficiency fracture of fourth metatarsal bone in a patientwith Klippel-Trénaunay syndrome.DiscussionKlippel-Trénaunay-Weber or simply Klippel-Trénaunaysyndrome (KTS) also known as osteoangiohypertrophysyndrome or nevus vasculosus hypertrophicus is a rarecongenital non-inheritable venous disorder of unknownorigin. A classical symptom triad of port-wine stain,varicosis, and limb hypertrophy was first described by thetwo French physicians Maurice Klippel and Paul Trénaunayin 1900 [1].The etiology of KTS is still not determined. Klippel andTrénaunay speculated that a spinal cord abnormality mightbe the cause of observed symptoms. Other authors believethat atresia of the deep leg veins or developmentalmesodermal defect could be the underlying cause [2].Current findings suggest that KTS is a result of mutation ofan angiogenic factor gene [3].Diagnosis is usually based on the presence of at leasttwo classic symptoms at birth or in early childhood.Cutaneous manifestations are red to purplish in color andcan be found on any part of the body in 98% of patients [4].They are vascular malformation–ectatic, thin-walled capil-laries in the dermis.Varicosis is found in 72% of the KTS-affected population[4]. The deep venous system of an affected limb might alsobe involved. Of high importance are visceral vascularmalformations as they can cause severe hemorrhages.Lymphatic system involvement in the form of malforma-tions is reported in 11% of patients [4].Jacob et al. found that 67% of KTS patients present with alimb hypertrophy limited to one leg but more limbs and heador trunk might also be involved [4]. In an overwhelmingmajority of cases, girth and/or length of involved extremity isincreased, but decrease of length and width have also beenreported [5]. The limb enlargement develops because of softtissue hypertrophy with or without bone hypertrophy.Associated findings include macrodactyly, syndactyly, andpolydactyly [6]. Affected bones are elongated and showcortical thickening. An imaging feature of advanced stages isosteoporotic-like changes owing to intraosseous vascularmalformations as seen in our patient [7].In many patients there is no treatment needed, althoughcompression stockings are recommended for all of them [8].Skin care is advised to avoid cellulitis. In mature patients withleg length difference of more then 2 cm, surgical shorteningof the affected limb might be considered. Superficial as wellas deep vascular malformations might be treated by lasertherapy, excision, cryotherapy, sclerosis, and ligation.In the presented patient, osteoangiohypertrophy syndromeof left leg has been diagnosed in childhood. Because ofchronic foot pain, a radiograph was performed that showedphleboliths, osteopenia of the first to third metatarsal andThe case presentation can be found at doi:10.1007/s00256-011-1237-9.G. M. Karwacki (*) :U. Studler : T. NiemannDepartment of Radiology, University Hospital Basel,Petersgraben 4,4031, Basel, Switzerlande-mail: karwackig@uhbs.chU. Studlere-mail: studleru@uhbs.chT. Niemanne-mail: niemannt@uhbs.chSkeletal Radiol (2012) 41:733–734DOI 10.1007/s00256-011-1238-8callus at the diaphysis of fourth metatarsal (Fig. 1). After2 weeks, a work-up MRI was performed and showed soft-tissue hypertrophy, varicosis, phleboliths, and a fracture of thefourth metatarsal bone with callus (Fig. 2). There was no bonehypertrophy or KTS-associated cortical thickening. Due tonumerous vascular malformations invading the first to thirdmetatarsal bones, further obscured undisplaced fractures couldnot be excluded. Follow-up CT, acquired after over 2 months(Fig. 3), showed no further fractures and progressive union ofthe fourth metatarsal bone.References1. Klippel M, Trénaunay P. Du Noevus Variqueux Osteo-Hypertrophique.Arch Gen Med (Paris). 1900;3:641–2.2. Servelle M. Klippel and Trénaunay’s syndrome. 768 operated cases.Ann Surg. 1985;201(3):365–73.3. Timur AA, Driscoll DJ, Wang Q. Biomedicine and diseases: theKlippel-Trénaunay syndrome, vascular anomalies and vascularmorphogenesis. Cell Mol Life Sci. 2005;62(13):1434–47.4. Jacob AG, Driscoll DJ, Shaughnessy WJ, Stanson AW, Clay RP,Gloviczki P. Klippel-Trénaunay syndrome: spectrum and management.Mayo Clin Proc. 1998;73(1):28–36.5. Baskerville PA, Ackroyd JS, Lea Thomas M, Browse NL. TheKlippel-Trénaunay syndrome: clinical, radiological and haemody-namic features and management. Br J Surg. 1985;72(3):232–6.6. Castriota-Scanderbeg A, Dallapiccola B. Abnormal skeletal pheno-types: from simple signs to complex diagnoses. Berlin HeidelbergNew York: Springer; 2005. p. 732.7. Kormano M, Lindgren I, Helander I. Radiological findings in skindiseases and related conditions. New York: Thieme; 1998:195.8. Kihiczak GG, Meine JG, Schwartz RA, Janniger CK. Klippel–Trénaunay syndrome: a multisystem disorder possibly resultingfrom a pathogenic gene for vascular and tissue overgrowth. Int JDermatol. 2006;45(8):883–90.734 Skeletal Radiol (2012) 41:733–734

Chronic middle foot pain in a patient with a swollen leg: diagnosis and discussion

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Chronic middle foot pain in a patient with a swollen leg: diagnosis and discussion

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