Author Affiliation: National Human Genome Research Institute, Genetic Diseases Research Branch, National Institutes of Health, Bethesda, Md.
Grand Rounds at the Clinical Center of the National
Institutes of Health Section Editors: John I. Gallin, MD, the Clinical
Center of the National Institutes of Health, Bethesda, Md; David S. Cooper,
MD, Contributing Editor, JAMA.
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 LG. The Multifaceted Challenges of Proteus Syndrome. JAMA. 2001;285(17):2240-2243. doi:10.1001/jama.285.17.2240