This review summarizes the available studies of a rare condition in which individuals seek the amputation of a healthy limb or desire to be paraplegic. Since 1977, case reports and group studies have been produced, trying to understand the cause of this unusual desire. The main etiological hypotheses are presented, from the psychological/psychiatric to the most recent neurologic explanation. The paradigms adopted and the clinical features are compared across studies and analyzed in detail. Finally, future directions and ethical implications are discussed. A proposal is made to adopt a multidisciplinary approach that comprises state-of-the-art technologies and a variety of theoretical models, including both body representation and psychological and sexual components.