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Early diagnosis of ‘Rapunzel syndrome’ can prevent fatalities: Local case report 

03 Jun 2021

  • Extremely rare intestinal condition resulting from ingesting hair (trichophagia)

By Ruwan Laknath Jayakody    Even though the Rapunzel syndrome is an extremely uncommon variant of trichobezoar, awareness and early diagnosis could prevent fatal complications in young females with chronic hair loss and abdominal pain, a recent local study found.  This was noted in a case report titled Death of a young girl with Rapunzel Syndrome authored by N.D.N.A. Mendis (attached to the Faculty of Medicine of the University of Colombo) and Y.M.G. Illangarathne Banda (attached to the Teaching Hospital, Kurunegala) which was published in the Sri Lanka Journal of Forensic Medicine, Science and Law.  Rapunzel syndrome was first described in 1968 by E.D. Vaughan Jr., J.L. Sawyers and H.W. Scott Jr. in The Rapunzel syndrome: An unusual complication of intestinal bezoar in relation to large trichobezoars found in two teenage girls.  A bezoar (the term, according to S. Gupta Naik, S. Naik, A.K. Chaudhary, P. Jain and A. Sharma’s Rapunzel Syndrome Reviewed and Redefined originates from Arabic or Persian languages), Mendis and Banda explain, is an indigestible accumulation of foreign material in the gastrointestinal tract. These masses are classified according to their contents with trichobezoars being, as noted by M. Iwamuro, H. Okada, K. Matsueda, T. Inaba, C. Kusumoto, A. Imagawa and K. Yamamoto in the Review of the diagnosis and management of gastrointestinal bezoars, concretions of hair in the form of hair bundles which are formed into a mass of collected swallowed hair, in the case of the Rapunzel syndrome as described by M.R. Phillips, S. Zaheer and G.T. Drugas in Gastric trichobezoar: case report and literature review, in the stomach, with strands of hair from the hairball extending like a tail into the small bowel/intestine through the pylorus (the opening from the stomach into the duodenum which is the first part of the small intestine).  According to Mendis and Banda, infants and children, particularly if mentally disturbed or abnormal, may have a habit of swallowing foreign material, which may lead to the formation of a bezoar in the gastrointestinal tract.  Trichotillomania described in the Fifth Edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) as an obsessive compulsive and related psychiatric disorder, is, Mendis and Banda note, a condition of illness where the individual pulls out his or her hair from various body sites (the scalp, eyelashes, eyebrows, the pubic region, or other body parts) and is usually associated with a condition called trichophagia which involves the ingestion of hair where the individual chews and swallows hair.  Human hair usually resists peristaltic (involuntary progressive wave like contraction movements of longitudinal and circular muscles in the digestive tract) movement and as pointed out by R.R. Gorter, C.M. Kneepkens, E.C. Mattens, D.C. Aronson and H.A. Heij in the Management of trichobezoar: case report and literature review, M.A. Nuss, D. Carlisle, M. Hall, S.C. Yerneni and R. Kovach in the Trichotillomania: a review and case report and O. Kleiner, R. Finaly and Z. Cohen in the Giant gastric trichobezoar presenting as abdominal mass in a child, it sticks to the stomach wall and gradually grows into a sticky ball of hair. Often, this in turn leads to the development of chronic symptoms and signs, complications which according to Gorter et al., and Bezoar induced ulceration and perforation of the upper gastrointestinal tract in mentally retarded patients by E. Avissar, M. Goldberg and O. Lernau, include bowel obstruction, nausea and vomiting, the sensation of mass and fullness, the loss of appetite, and in severe cases, even perforation (of the stomach or intestines which as per J.S. Valenciano, R. Nonose, R.B. Cruz, D.T. Sato, F.M. Fernandes, E.F. Nascimento and C.A.R. Martinez’s Tricholithobezoar causing gastric perforation is the most common complication) and bleeding, mainly in the gastrointestinal system. However, Mendis and Banda claim that while gastric perforation is an infrequent complication of this condition, it is said to occur due to high intra gastric pressure resulting from the bezoar. According to Complications of trichobezoars: a 30-year experience by W.B. Wadlington, M. Rose and G.W. Holcomb Junior, the chronic stagnation of substances due to accumulating hair could also result in the inflammation and infection of the stomach wall, thus rendering it susceptible to perforation. Mendis and Banda explained that pressure necrosis is the possible cause of gastric or intestinal perforation and while mortality due to this condition is said to be rare, it is associated with the perforation of the gastrointestinal tract.  The condition, Mendis and Banda point out, could go unnoticed for a long time because, on most occasions, it goes un-witnessed and even when witnessed, is not considered pathological and thus remains undiagnosed, and leads in turn to the chronic accumulation of hair in the stomach. The loss of hair, as per Mendis and Banda, is the first symptom or complaint, with patients often going undiagnosed until it is too late. In this regard, Mendis and Banda note that due to the stomach’s large capacity, gastric bezoars do not become symptomatic until they are substantially large in size, which is when they are often palpable.  According to Mendis and Banda, of persons with trichobezoars, only 50% give a history of trichophagia while as per the Rapunzel Syndrome: A Case Report by M. Dhinakar and W. Balkhair, 55% of all bezoars are trichobezoars.  Trichobezoars may, Mandis and Banda elaborate, present with varied upper gastrointestinal symptoms.  According to A Case Report: Large Trichobezoar Causing Rapunzel Syndrome by S.C. Kim, S.H. Kim and S.J. Kim where 49 cases from 1968 to 2015 were reviewed, only three cases had resulted in a fatal outcome.  Mendis and Banda presented a case of an 11-year-old Sri Lankan girl who succumbed to this condition where the diagnosis was made at the autopsy.  Case History  The deceased whose parents had separated a few years ago, lived with her uncle and aunt as they did not have children. She had preferred to be alone. Her guardians and others had not noticed any abnormal behaviour; however, they had noticed the loss of hair over a period of six to eight months. They had sought medical treatment, including a dermatological opinion. Following treatment, the relatives had noticed an apparent improvement but had stated that it had recurred after a period of time. She had also complained of the loss of appetite and occasional abdominal pain over a period of three to four months and of abdominal distention for one month. Four days before her death, she had complained of constipation. On the fatal day, she had complained of severe abdominal pain with fever and vomiting. She had collapsed soon after and was rushed to hospital where she was pronounced dead.  There was no significant history of any illnesses, including psychiatric conditions. The autopsy was performed the day after. The deceased was an averagely built female with mild pallor and dehydration. There were no external injuries suggestive of accidental or intentional trauma. The length of the head hair was 30 centimetres, being somewhat sparse with areas of alopecia (hair loss in small patches).  A collection of about one litre of yellow coloured purulent (pus) fluid was seen in the peritoneal (the smooth tissue membrane forming the lining of the inner wall of the abdominal cavity and covers the abdominal organs) cavity. A perforation was noted on the anterior and outer wall of the stomach close to the lesser curvature in its mid region. There was a sticky ball of human hair weighing 600 grams in the stomach. A small tail of hair was seen extending into the first and second part of the duodenum. No other abnormality was detected in the gastrointestinal system or any other system. The cause of death was stated as peritonitis (inflammation of the peritoneum) due to the perforation of the stomach owing to a trichobezoar in the stomach.  Mendis and Banda pointed out that the reasons are manifold as to why the condition was not diagnosed until the patient died.  “Patients usually seek treatment from family physicians and dermatologists but are not referred to psychiatrists. This condition is known to be common in young females. When a young female presents with abdominal symptoms accompanied by alopecia and trichophagia, the possibility of trichobezoar should be considered according to the Trichobezoar obstructing the terminal ileum (the distant end and narrowest section of the small intestine that intersects with the large intestine) by R.D. Sharma, S. Kotwal, Chintamani and D. Bhatnagar. The asymptomatic and unsuspicious nature of this pathology is mainly responsible for the delayed or missed diagnosis. A highly variable and non-specific pattern of alopecia and the presence of other differential diagnoses usually complicate the picture and make the diagnosis more difficult. Also, the nature of the condition and the asymptomatic period before the condition gets aggravated is likely to misdirect the clinician, especially when such pathology is very rare,” Mendis and Banda explained.  However, in this case, Mendis and Banda point out, the diagnosis of trichobezoar was never even considered despite the presence of the characteristic symptoms and signs. Further, according to Mendis and Banda, child abuse too is a possible differential diagnosis that should be considered, albeit not in this particular case.  With regard to detecting bezoars, Mendis and Banda add that various imaging modalities such as computerised tomography (CT) with contrast medium, help.  Awareness of this treatable condition is therefore, Mendis and Banda observe, essential for clinicians to avoid a fatal outcome such as in this case.


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