A Case of Proteus Syndrome with Hemangioma Presentation

Abstract

Background: Proteus syndrome is a rare genetic disorder characterized by overgrowth of bones, skin, and other tissues, with vascular malformations, epidermal moles, and subcutaneous masses. We herein present a case of Proteus syndrome with extensive hemangiomas. Case description: An 11-year-old girl with Proteus syndrome was presented with extensive hemangioma, asymmetrical growth in lower limbs, skin and bone lesions, and facial hemihypertrophy. Conclusions: Given the severe complications of this syndrome and the risk of early death in the patients, early diagnosis is essential for reducing the risk of morbidity and mortality. These patients should be followed up for progressive skeletal deformities, hemangiomas, and malignant or benign tumors. In our case, risk of thrombosis and pulmonary embolism limited surgical intervention.

Keywords

• Proteus Syndrome
• Hemangioma
• Facial hemihypertrophy