Rapunzel syndrome

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Rapunzel syndrome
Specialty Psychiatry, gastroenterology

Rapunzel syndrome is an extremely rare intestinal condition in humans resulting from ingesting hair (trichophagia). [1] [2] The syndrome is named after the long-haired girl Rapunzel in the fairy tale by the Brothers Grimm. Trichophagia is sometimes associated with the hair-pulling disorder trichotillomania. [3] This syndrome is a rare and unusual form of trichobezoar. Since 1968, there have been fewer than 40 documented cases in the literature. [4] This syndrome occurs when the trichobezoar (hairball) reaches past the small intestine, and sometimes even into the colon producing a long tail-like extension of hair (NCBI, 2016).

Contents

Signs and symptoms

The use of the term Rapunzel syndrome first appeared in the literature in 1968. [5]

Characteristics of the syndrome include:[ citation needed ]

Cause

Rapunzel syndrome is caused by the ingestion of hair. Rapunzel syndrome is characterized by a compulsive disorder of pulling one's own hair and ingesting it. There are several psychiatric disorders that are associated with Rapunzel syndrome, such as trichotillomania, trichophagia, and pica. Trichotillomania is the compulsion to pull out one's own hair; if an individual consumes it after ripping it out as well, it is known as trichophagia. Pica comes from the Latin word for "magpie" and involves the craving of non-food items such as cloth, wool, hair, or even small metallic objects.[ citation needed ]

Diagnosis

Trichobezoar can be preoperatively diagnosed. However, the diagnosis of the Rapunzel syndrome has to consider several aspects such as the patient's history with disorders like trichophagia and trichotillomania. [6] [7] This syndrome does not appear in the DSM V, and will therefore not be given as such, but will have been diagnosed as severe trichotillomania. [8] The syndrome itself is used to describe the manifestation of a trichobezoar which has extended far into the small intestine. It describes the trichobezoar, not the mental health disorder which precipitated it. [7]

The diagnosis of the syndrome is also done by endoscopy. A CT scan is recommended to determine the size and the extension of the trichobezoar. [5] Upper GI endoscopy is known as the gold standard for the diagnosis of a trichobezoar, however the endoscopy alone might not necessarily detect the co-existing Rapunzel syndrome.

Treatment

Because the human gastrointestinal tract is unable to digest human hair, the trichobezoar may have to be treated surgically. This involves removal of the mass by careful extraction from the stomach and duodenum. If the mass is small enough it can be removed endoscopically. Once the mass surpasses greater than 20 centimeters, it must be removed by gastrotomy. It is recommended that general anesthesia with intubation be used when removing the hairball in order to protect the throat from any damage. Patients usually also require psychiatric evaluation and treatment due to the association with impulse control disorders, especially trichotillomania. [9] Long-term follow up as well as psychiatric consultation is also recommended to prevent the event from repeating.[ citation needed ]

Outcomes

The expected outlook after surgical intervention is very promising. The success rate of removal of the mass is above 90% and the complication rate is only near 10%. Recurrence is highly uncommon but can occur if the patient does not follow up on psychological treatment or counseling.[ citation needed ]

Epidemiology

Rapunzel syndrome is extremely rare, with less than 64 cases reported since 1968. It is mainly seen in emotionally or mentally disturbed young or adolescent females. The first known case dates back to a 16-year-old boy in 1779; this was eventually published by Vaughan et al. in 1968. Of the cases reported, the typical age range affected from this syndrome is between 4 and 19 years of age. There is no specific region that is subject to developing this condition, however of the cases reported all of the women came from countries where women traditionally had long hair. Women are more subject to this disorder because women often have longer hair than men. There is only one reported male case of Rapunzel syndrome, but he was eating his sister's hair and not his own.[ citation needed ]

Research

Although this condition is extremely rare, researchers have mentioned that it is absolutely critical that prevention methods are taken after surgery. The most common reason for recurrence in patients is lack of follow-up care and incompletion of psychological treatment. Researchers have concluded that 92.5% of all cases reported were treated by laparotomy with a 99% success rate (NCBI,2016). There have been few reports of successful treatment through laparoscopic surgery, however this has only been reported to be done in pediatric patients.[ citation needed ]

Related Research Articles

<span class="mw-page-title-main">Trichotillomania</span> Medical condition

Trichotillomania (TTM), also known as hair-pulling disorder or compulsive hair pulling, is a mental disorder characterized by a long-term urge that results in the pulling out of one's own hair. A brief positive feeling may occur as hair is removed. Efforts to stop pulling hair typically fail. Hair removal may occur anywhere; however, the head and around the eyes are most common. The hair pulling is to such a degree that it results in distress and hair loss can be seen.

<span class="mw-page-title-main">Hirschsprung's disease</span> Medical condition

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Trichophagia is a form of disordered eating in which persons with the disorder suck on, chew, swallow, or otherwise eat hair. The term is derived from ancient Greek θρίξ, thrix ("hair") and φαγεῖν, phagein. Tricho-phagy refers only to the chewing of hair, whereas tricho-phagia is ingestion of hair, but many texts refer to both habits as just trichophagia. It is considered a chronic psychiatric disorder of impulse control. Trichophagia belongs to a subset of pica disorders and is often associated with trichotillomania, the compulsive pulling out of ones own hair. People with trichotillomania often also have trichophagia, with estimates ranging from 48-58% having an oral habit such as biting or chewing, and 4-20% actually swallowing and ingesting their hair. Extreme cases have been reported in which patients consume hair found in the surrounding environment, including the hair of other people and animals. In an even smaller subset of people with trichotillomania, their trichophagia can become so severe that they develop a hair ball. Termed a trichobezoar, these masses can be benign, or cause significant health concerns and require emergency surgery to remove them. Rapunzel syndrome is a further complicaiton whereby the hair ball extends past the stomach and can cause blockages of gastrointestinal system.

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<span class="mw-page-title-main">Hairball</span> Mass of ingested hair created in the stomach, often regurgitated by cats

A hairball is a small collection of hair or fur formed in the stomach of animals, and uncommonly in humans, that is occasionally vomited up when it becomes too big. Hairballs are primarily a tight elongated cylinder of packed fur, but may include bits of other elements such as swallowed food. Animals with hairballs are sometimes mistaken as having other conditions of the stomach such as lymphosarcoma, tuberculosis, and tumor of the spleen. Cats are especially prone to hairball formation since they groom themselves by licking their fur, and thereby ingest it. Rabbits are also prone to hairballs because they groom themselves in the same fashion as cats, but hairballs are especially dangerous for rabbits because they cannot regurgitate them. Due to the fragility of their digestive systems, hairballs in rabbits must be treated immediately or they may stop feeding and ultimately die from dehydration. Cattle are also known to accumulate hairballs but, as they do not vomit, these are found usually after death and can be quite large.

<span class="mw-page-title-main">Mallory–Weiss syndrome</span> Bleeding from a laceration in the mucosa at the junction of the stomach and esophagus

Mallory–Weiss syndrome or gastro-esophageal laceration syndrome refers to bleeding from a laceration in the mucosa at the junction of the stomach and esophagus. This is usually caused by severe vomiting because of alcoholism or bulimia, but can be caused by any condition which causes violent vomiting and retching such as food poisoning. The syndrome presents with hematemesis. The laceration is sometimes referred to as a Mallory–Weiss tear.

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References

  1. Sah DE, Koo J, Price VH (2008). "Trichotillomania" (PDF). Dermatol Ther. 21 (1): 13–21. doi: 10.1111/j.1529-8019.2008.00165.x . PMID   18318881.[ dead link ]
  2. Ventura DE, Herbella FA, Schettini ST, Delmonte C (2005). "Rapunzel syndrome with a fatal outcome in a neglected child". J. Pediatr. Surg. 40 (10): 1665–7. doi:10.1016/j.jpedsurg.2005.06.038. PMID   16227005.
  3. Chamberlain SR, Menzies L, Sahakian BJ, Fineberg NA (April 2007). "Lifting the veil on trichotillomania". Am J Psychiatry. 164 (4): 568–74. doi:10.1176/appi.ajp.164.4.568. PMID   17403968.
  4. Gonuguntla, Veena; Joshi, Divya-Devi (2009). "Rapunzel Syndrome: A Comprehensive Review of an Unusual Case of Trichobezoar". Clinical Medicine & Research. 7 (3): 99–102. doi:10.3121/cmr.2009.822. ISSN   1539-4182. PMC   2757434 . PMID   19625498.
  5. 1 2 Maloney, William James (2014-09-22). The Medical Lives of History's Famous People. Bentham Science Publishers. ISBN   9781608059362.
  6. Wang, Zhe; Cao, Feng; Liu, Diangang; Fang, Yu; Li, Fei (2016-11-22). "The diagnosis and treatment of Rapunzel syndrome". Acta Radiologica Open. 5 (11): 205846011562766. doi:10.1177/2058460115627660. ISSN   2058-4601. PMC   5122172 . PMID   27900201.
  7. 1 2 Wang, Zhe; Cao, Feng; Liu, Diangang; Fang, Yu; Li, Fei (2016-11-22). "The diagnosis and treatment of Rapunzel syndrome". Acta Radiologica Open. 5 (11): 205846011562766. doi:10.1177/2058460115627660. PMC   5122172 . PMID   27900201.
  8. Diagnostic and statistical manual of mental disorders: DSM-5 (5th ed.). Arlington, VA: American Psychiatric Association. 2013. ISBN   978-0-89042-554-1. OCLC   830807378.
  9. Gorter RR, Kneepkens CM, Mattens EC, Aronson DC, Heij HA (May 2010). "Management of trichobezoar: case report and literature review". Pediatr. Surg. Int. 26 (5): 457–63. doi:10.1007/s00383-010-2570-0. PMC   2856853 . PMID   20213124.

Further reading