The multifaceted challenges of Proteus syndrome.
Proteus syndrome is a rare and sporadic disorder that causes postnatal overgrowth of multiple tissues in a mosaic pattern. The overgrowth can involve skin, subcutaneous tissue, connective tissue (including bone), the central nervous system, and viscera. Complications of Proteus syndrome include, among others, progressive skeletal deformities, invasive lipomas, benign and malignant tumors, and deep venous thrombosis with pulmonary embolism. Care of patients with Proteus syndrome presents significant challenges to both physicians and parents because of the various medical as well as psychosocial consequences of the disease. Herein, the case of a 5-year-old patient who manifested a number of these complications is presented. Current knowledge about the diagnosis, natural history, etiology, and management of the disorder is reviewed.
Biesecker
L G
LG
National Human Genome Research Institute, Genetic Diseases Research Branch, National Institutes of Health, Bldg 49, Room 4A80, Bethesda, MD 20892-4472, USA. leslieb@helix.nih.gov
D002675:Child, Preschool; D006801:Humans; D008297:Male; D016715:Proteus Syndrome / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology / Q000628:therapy