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In the 26th year of life a young woman suffered a portal and mesenteric thrombosis followed by portal hypertension with splenomegaly, esophageal varices and pancytopenia. After splenorenal shunt surgery and splenectomy hematologic parameters resolved rapidly. Also, she was suffering of Proteus syndrome, which is an extremely rare and sporadic hamartomatous disorder characterized by a variety of cutaneous and subcutaneous tumors including vascular malformations, several types of nevi, partial gigantism of the hands and/or feet and cystic visceral affections. It has been demonstrated that concurrence of several prothrombotic risk factors occur relatively often in patients with portal vein thrombosis. An extensive investigation of thrombophilic factors revealed reproduced high anti-beta2-glycoprotein I antibody titers together with mildly increased homocysteine levels. Other coagulation parameters were normal or negative. The presence of myeloproliferative moglobinuria was ruled out. Together with the history of recurrent superficial thrombophlebitis and portal vein thrombosis in the absence of other underlying diseases allowed for diagnosis of primary antiphospholipid syndrome being aggravated by hyperhomocysteinemia and vascular malformations caused by Proteus syndrome. Because of combined risk factors for further thrombembolisms permanent oral anticoagulant therapy was initiated.

A three-year-old male patient presented already at his birth a disproportion macrosomia of the left foot and a large, nodular nevus flammeus in the left hip region, which led to the tentative diagnosis of a Klippel-Trenaunay syndrome. In the following years, both changes showed a continuous progression, with distinct soft-tissue swelling as well as papillomatous and verruciform vegetations of the nevus. Additionally, large, plain subcutaneous masses developed under the right shoulder, and a macrodactyly of the first and second left toe could be observed. Although several examinations had been performed in the meantime, the tentative diagnosis could not be confirmed up to that time. On the occasion of a severe local infection in the hip region, which led to the consideration of a surgical therapy, a radionuclide lymphography, a blood pool scintigraphy including dynamic phlebography and ventriculography as well as a bone scintigraphy were performed. These examinations were done simultaneously at one day in order to avoid a longer period of immobilization. The findings led to the diagnosis of a large lymphangioma, which could be confirmed histologically after surgery. In consideration of all results, the basic disorder seems to be the rare proteus syndrome rather than a Klippel-Trenaunay syndrome.

The Proteus-syndrome is a recently described congenital hamartomatosis consisting of numerous clinical features of great variety. Mainly affected are the musculo-skeletal system, primarily by hemihypertrophy, macrodactyly and exostoses, and the skin and the subcutaneous tissue, primarily by pigmented naevi and subcutaneous tumors. The differential diagnosis includes other malformation syndromes, e. g. Klippel-Trenaunay-Weber syndrome and other hamartomatosis. Surgical intervention and treatment is difficult because of a frequency of complications and recurrences. This article describes clinical manifestations of Proteus syndrome, differential diagnosis and therapeutic strategies.

A case with various skeletal abnormalities, soft tissue masses and skin lesions diagnosed as Proteus syndrome is reported. Proteus syndrome is included in the differential diagnosis of many disorders, because of the polymorphous nature of its clinical manifestations. It is a rare disorder and leads to functional disabilities as well as cosmetic and psychological problems. Early diagnosis and careful follow-up with appropriate surgical interventions is important in preventing long-term complications.