Rapunzel Syndrome: Clinical, Diagnostic and Forensic Aspects in Related Deaths-A Review of the Literature

Abstract

Background: Rapunzel syndrome is a rare and severe form of trichobezoar, characterized by the presence of hair masses in the stomach that often extend into the bowel, resembling the legendary "Rapunzel's" long hair. Methods: This review examines the clinical, diagnostic, forensic, and post-mortem aspects associated with Rapunzel syndrome, with a focus on cases resulting in mortality or those at high risk of death due to complications. In particular, the review systematically analyzes the existing literature on fatal cases of Rapunzel syndrome, emphasizing insights into risk factors, clinical manifestations, diagnostic methods, autopsy findings, and preventive measures to provide a focused understanding of these critical aspects. Results: The syndrome predominantly affects young females with a history of trichotillomania (hair-pulling) and trichophagia (hair-eating), often associated with underlying psychiatric conditions. Clinically, Rapunzel syndrome presents with non-specific gastrointestinal symptoms, including abdominal pain, vomiting, and malnutrition, which may complicate timely diagnosis. Diagnosis typically involves imaging techniques such as ultrasound, CT scans, and endoscopy, but cases often go unrecognized until complications like intestinal obstruction, perforation, or even fatal outcomes occur. Forensically, Rapunzel syndrome presents unique challenges, as misdiagnosis or delayed intervention can lead to fatalities that may raise questions in medico-legal investigations. Post-mortem investigations, particularly autopsies, have proven instrumental in elucidating rare complications and advancing understanding of the syndrome's long-term effects. Conclusions: Increased awareness, timely diagnosis, and comprehensive evaluation, including autopsy studies, are essential to improve patient outcomes and reduce the potential for life-threatening complications in this rare yet serious condition.

Keywords: Rapunzel syndrome; psychiatry; trichophagia; trichotillomania.

Figure 1

PRISMA flowchart.

Figure 2

Pathological mechanisms of Rapunzel syndrome.