Rapunzel syndrome | |
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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).
The use of the term Rapunzel syndrome first appeared in the literature in 1968. [5]
Characteristics of the syndrome include:[ citation needed ]
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 ]
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.
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 ]
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 ]
Rapunzel syndrome is extremely rare, with fewer 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 ]
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 ]
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.
Hirschsprung's disease is a birth defect in which nerves are missing from parts of the intestine. The most prominent symptom is constipation. Other symptoms may include vomiting, abdominal pain, diarrhea and slow growth. Most children develop signs and symptoms shortly after birth. However, others may be diagnosed later in infancy or early childhood. About half of all children with Hirschsprung's disease are diagnosed in the first year of life. Complications may include enterocolitis, megacolon, bowel obstruction and intestinal perforation.
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 other people's and animals' hair. In an even smaller subset of people with trichotillomania, their trichophagia can become so severe that they develop a hairball. 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 complication whereby the hairball extends past the stomach and can cause blockages of gastrointestinal system.
Opsoclonus myoclonus syndrome (OMS), also known as opsoclonus-myoclonus-ataxia (OMA), is a rare neurological disorder of unknown cause which appears to be the result of an autoimmune process involving the nervous system. It is an extremely rare condition, affecting as few as 1 in 10,000,000 people per year. It affects 2 to 3% of children with neuroblastoma and has been reported to occur with celiac disease and diseases of neurologic and autonomic dysfunction.
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.
Pagophagia is the compulsive consumption of ice or iced drinks. It is a form of the disorder known as pica, which in Latin refers to a magpie that eats everything indiscriminately. Pica's medical definition refers to the persistent consumption of nonnutritive substances, ice in this case, for over a period of at least one month. However, different studies have included alternative definitions for pagophagia, including "daily consumption of 2–11 full glasses of ice " or "the purposeful ingestion of at least one ordinary tray of ice daily for a period in excess of two months." It has been shown to be associated with iron-deficiency anemia and responsive to iron supplementation, leading some investigators to postulate that some forms of pica may be the result of nutritional deficiency.
Excoriation disorder, more commonly known as dermatillomania, is a mental disorder on the obsessive–compulsive spectrum that is characterized by the repeated urge or impulse to pick at one's own skin, to the extent that either psychological or physical damage is caused.
Esophageal rupture, also known as Boerhaave syndrome, is a rupture of the esophageal wall. Iatrogenic causes account for approximately 56% of esophageal perforations, usually due to medical instrumentation such as an endoscopy or paraesophageal surgery. The 10% of esophageal perforations caused specifically by vomiting are termed Boerhaave syndrome.
Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS) is a controversial hypothetical diagnosis for a subset of children with rapid onset of obsessive-compulsive disorder (OCD) or tic disorders. Symptoms are proposed to be caused by group A streptococcal (GAS), and more specifically, group A beta-hemolytic streptococcal (GABHS) infections. OCD and tic disorders are hypothesized to arise in a subset of children as a result of a post-streptococcal autoimmune process. The proposed link between infection and these disorders is that an autoimmune reaction to infection produces antibodies that interfere with basal ganglia function, causing symptom exacerbations, and this autoimmune response results in a broad range of neuropsychiatric symptoms.
Arachnoid cysts are cerebrospinal fluid covered by arachnoidal cells and collagen that may develop between the surface of the brain and the cranial base or on the arachnoid membrane, one of the three meningeal layers that cover the brain and the spinal cord. Primary arachnoid cysts are a congenital disorder whereas secondary arachnoid cysts are the result of head injury or trauma. Most cases of primary cysts begin during infancy; however, onset may be delayed until adolescence.
Globus pharyngis, globus hystericus or globus sensation is the persistent but painless sensation of having a pill, food bolus, or some other sort of obstruction in the throat when there is none. Swallowing is typically performed normally, so it is not a true case of dysphagia, but it can become quite irritating. It is common, with 22–45% of people experiencing it at least once in their lifetime.
The obsessive–compulsive spectrum is a model of medical classification where various psychiatric, neurological and/or medical conditions are described as existing on a spectrum of conditions related to obsessive–compulsive disorder (OCD). "The disorders are thought to lie on a spectrum from impulsive to compulsive where impulsivity is said to persist due to deficits in the ability to inhibit repetitive behavior with known negative consequences, while compulsivity persists as a consequence of deficits in recognizing completion of tasks." OCD is a mental disorder characterized by obsessions and/or compulsions. An obsession is defined as "a recurring thought, image, or urge that the individual cannot control". Compulsion can be described as a "ritualistic behavior that the person feels compelled to perform". The model suggests that many conditions overlap with OCD in symptomatic profile, demographics, family history, neurobiology, comorbidity, clinical course and response to various pharmacotherapies. Conditions described as being on the spectrum are sometimes referred to as obsessive–compulsive spectrum disorders.
Dubowitz syndrome is a rare genetic disorder characterized by microcephaly, stunted growth, and a receding chin. Symptoms vary among patients, but other characteristics include a soft, high-pitched voice, partial webbing of the fingers and toes, palate deformations, genital abnormalities, language difficulties, and an aversion to crowds. The pathogenesis of the disease is yet to be identified, and no medical tests can definitively diagnose the disease. The primary method of diagnosis is to identify facial phenotypes. Since it was first described in 1965 by English physician Victor Dubowitz, over 140 cases have been reported worldwide. Although the majority of cases have been reported from the United States, Germany, and Russia, the disorder appears to affect both genders and all ethnicities equally.
An esophageal food bolus obstruction is a medical emergency caused by the obstruction of the esophagus by an ingested foreign body.
Superior mesenteric artery (SMA) syndrome is a gastro-vascular disorder in which the third and final portion of the duodenum is compressed between the abdominal aorta (AA) and the overlying superior mesenteric artery. This rare, potentially life-threatening syndrome is typically caused by an angle of 6–25° between the AA and the SMA, in comparison to the normal range of 38–56°, due to a lack of retroperitoneal and visceral fat. In addition, the aortomesenteric distance is 2–8 millimeters, as opposed to the typical 10–20. However, a narrow SMA angle alone is not enough to make a diagnosis, because patients with a low BMI, most notably children, have been known to have a narrow SMA angle with no symptoms of SMA syndrome.
Antley–Bixler syndrome is a rare, severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body.
Madarosis is a condition that results in the loss of eyelashes, and sometimes eyebrows. The term "madarosis" is derived from the ancient Greek "madaros", meaning "bald". It originally was a disease of only losing eyelashes but it currently is the loss of both eyelashes and eyebrows. Eyebrows and eyelashes are both important in the prevention of bacteria and other foreign objects from entering the eye. A majority of patients with madarosis have leprosy, and it was reported that 76% of patients with varying types of leprosy had madarosis.
Loose anagen syndrome, also known as loose anagen hair syndrome, is a hair disorder related to dermatology. It is characterised by the easy and pain free detachment of anagen staged hairs from the scalp. This hair condition can be spontaneous or genetically inherited.
Acute esophageal necrosis (AEN), black esophagus, or Gurvits syndrome is a rare esophageal disorder. AEN defines itself with dark pigmentation of the esophagus, found during an upper gastrointestinal endoscopy. Pigmentation is usually black friable mucosa. The disorder is extremely rare, as only 89 patients over a span of 40 years have received this diagnosis. Specific study of the disorder's mortality rate is mentioned at 31.8%, but new research suggests mortality rates vary from 30 to 50%. The exact triggering mechanism for this disorder is still unknown, but is likely multifactorial.
Blue rubber bleb nevus syndrome is a rare disorder that consists mainly of abnormal blood vessels affecting the skin or internal organs – usually the gastrointestinal tract. The disease is characterized by the presence of fluid-filled blisters (blebs) as visible, circumscribed, chronic lesions (nevi).