Proteus syndrome

Proteus syndrome, also known as Wiedemann's syndrome (named after the German paediatrician Hans-Rudolf Wiedemann), is a congenital disorder that causes skin overgrowth and atypical bone development, often accompanied by tumors over half the body.

Proteus syndrome is highly variable, and is named after the Greek sea-god Proteus, who could change his shape.

The condition appears to have been first described in the American medical literature by Drs. Samia Temtamy and John Rogers in 1976 Dr.Michael Cohen described it in 1979, only a few more than 200 cases have been confirmed worldwide, with estimates that about 120 people are currently alive with the condition. As attenuated forms of the disease may exist, there could be many people with Proteus syndrome who remain undiagnosed. Those most readily diagnosed are also the most severely disfigured.

Presentation

Proteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels.

Proteus syndrome is a progressive condition wherein children are usually born without any obvious deformities. Tumors and skin and bone growths appear as they age. The severity and locations of these various asymmetrical growths vary greatly but typically the skull, one or more limbs, and soles of the feet will be affected. There is a risk of premature death in affected individuals due to deep vein thrombosis and pulmonary embolism caused by the vessel malformations that are associated with this disorder. Because of carrying excess weight and enlarged limbs, arthritis and muscle pain may also be symptoms — as is the case for Mandy Sellars, a woman living with a form of Proteus syndrome. Further risks may occur due to the mass of extra tissue — Joseph Merrick, the most famous sufferer of Proteus syndrome, himself died when the weight of his head dislocated his neck while he was sleeping.

The disorder itself does not uniformly cause learning impairments: the distribution of intelligence deficits among sufferers of Proteus syndrome appears higher than that of the general population, although this is difficult to determine with statistical significance. In addition, the presence of visible deformity may have a negative effect on the social experiences of the sufferer, causing cognitive and social deficits.

Afflicted individuals are at increased risk for developing certain tumors including unilateral ovarian cystadenomas, testicular tumors, meningiomas, and monomorphic adenomas of the parotid gland.

Genetics

In 2011 researchers determined the cause of Proteus syndrome. In 26 of 29 patients who met strict clinical criteria for the disorder Lindhurst et al. identified an activating mutation in AKT1 kinase in a mosaic state gene. This mutation was not present in more than 1,000 persons who were unaffected by this disorder. Previous research had suggested the condition linked to PTEN on chromosome 10, while other research pointed to chromosome 16. Prior to the determination of the cause of the disease in 2011, other researchers expressed doubt regarding the involvement of PTEN or GPC3.

Treatment

A team of doctors in Australia have trial tested the drug Rapamycin in the treatment of a patient said to have Proteus syndrome and have found it to be an effective remedy. However, the diagnosis of Proteus syndrome in this patient has been questioned by others.

Classification

Many sources classify Proteus syndrome to be a type of nevus syndrome. The lesions appear to be distributed in a mosaic manner. It has been confirmed that the disorder is an example of genetic mosaicism.

Notable cases

This extremely rare condition has been proposed as the condition that affected Joseph Merrick, the 'Elephant Man'.

Mandy Sellars has been diagnosed by some doctors as suffering from this condition. Her legs and feet have grown at a disproportionate rate since birth.

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Rare and Unusual Psychiatric Syndromes

Rare Psychiatric Syndromes: Introduction

Psychiatric disorders affect many lives. When assessing patients with a mental disorder, clinicians draw on a set of diagnoses that are common and that they frequently consider in the differential diagnosis when encountering a new patient. Likewise, when devising a treatment plan, clinicians select from common management options tailored to these conditions.

However, there are a number of rare psychiatric syndromes that are often taught in medical school or are asked about in standardized tests, but that clinicians rarely encounter. Some syndromes are neurologic, some are psychiatric in origin, which is relevant for the management. Some syndromes are merely a specific form of more general psychopathology and are managed similarly as the underlying disorder. The fact that these unusual mental phenomena carry the names of cities, historical events, and people indicates that the specific phenomenology is considered noteworthy and unusual, being a testimony of how complex the human brain is.

This 2-part series about rare psychiatric conditions and culture-bound syndromes is intended to refresh clinicians' memories of clinical syndromes they encounter rarely, but that they should be able to recognize, diagnose, and manage appropriately. The included syndromes span delusional misinterpretations, trauma-induced mental phenomena that range from anxiety to dissociative phenomena and psychosis; reactions to stressful, unexpected, overwhelming or experiences; and distinct phenomena following neurologic damage.

Capgras syndrome, named after a French psychiatrist who described the illusion of doubles, is a delusion of misidentification. It is characterized by a person's delusional belief that an acquaintance, usually a spouse or other close family member, has been replaced by an identical looking impostor or several doubles.

Capgras syndrome occurs most often in patients with schizophrenia, although it has also been reported in patients with dementia or epilepsy and after traumatic brain injury. The management does not differ from the treatment of the underlying disorders, and usually involves antipsychotic medications, although in dementia patients, cognitive enhancing treatments and nonpharmacologic strategies that diminish disorganization should be used.

Fregoli syndrome, named after the Italian actor Leopoldo Fregoli who was renowned for his ability to make quick changes of appearance during his stage act, is the inverse of Capgras syndrome. It is also a delusion of misidentification and is characterized by a person's delusional belief that persecutors or familiar people can assume the guise of strangers, in that different people are in fact a single person who changes his or her appearance or who appears in disguise.

As in Capgras syndrome, Fregoli syndrome occurs most often in patients with schizophrenia, although it has also been reported in patients with dementia or epilepsy and after traumatic brain injury. Again, the management does not differ from the treatment of the underlying disorders, and usually involves antipsychotic medications, although in cases of dementia cognitive-enhancing treatments and nonpharmacologic approaches that diminish disorganization should be used.

Cotard Delusion

Cotard syndrome is a specific nihilistic delusion named after Jules Cotard, a French neurologist, who first described the condition, which he called "le délire de négation" (negation delirium), in 1880. The affected person holds the delusional belief that he or she is already dead, does not exist, is putrefying or has lost his or her blood or internal organs.

It is most frequently observed in patients with psychotic depression or schizophrenias and is managed by focusing on the treatment of the underlying disorder.

Reduplicative Paramnesia

Reduplicative paramnesia consists of the delusional belief that a place or location has been duplicated, in that it exists in 2 or more places simultaneously, or that it has been 'relocated' to another site. It is basically the delusion of doubles of the Capgras syndrome, only that is does not refer to a person but to a place.

"Reduplicative paramnesia" was first used by neurologist Arnold Pick in 1903 to describe a condition in a patient with suspected Alzheimer disease.

Alien Hand Syndrome

Alien hand syndrome is the misattribution and belief that one's hand does not belong to oneself, but that it has its own life. The afflicted person has normal sensation in the hand and leg, but believes that the hand, while still being a part of their body, is acting autonomously, having 'a will of its own.' In effect, afflicted people lost the 'sense of agency' associated with the purposeful movement of the limb while retaining a sense of 'ownership' of the limb.

Sufferers of alien hand syndrome will often personify the alien limb, believing it to be "possessed" by some spirit or an entity that they may name or identify. There is a clear distinction between the behaviors of the 2 hands in which the affected hand is viewed as "wayward" or "disobedient," while the unaffected hand is under normal volitional control. At times, particularly in patients who have sustained damage to the corpus callosum that connects the 2 cerebral hemispheres (see also split-brain), the hands appear to be acting in opposition to each other, which has been termed "intermanual conflict" or "ideomotor apraxia."

Alien hand syndrome is usually caused by stroke or other brain damage, particularly in the areas of the corpus callosum, or frontal or parietal lobes

Alice in Wonderland Syndrome or Todd Syndrome

Alice in Wonderland syndrome (AIW) or Todd syndrome is a neurologic condition in which a patient's sense of body image, space, and/or time are distorted. Sufferers may experience micropsia or Lilliputian hallucinations, macropsia, or size distortion of other sensory modalities, which includes also an altered sense of velocity, produced by the distorted sense of size, perspective, and time.

AIWS is a result of change in perception as opposed to the eyes themselves malfunctioning. AIWS affects the sufferer's sense of vision, sensation, touch, and hearing, as well as one's own body image and sense of time. The most prominent and often most disturbing symptom is that of altered body image: the sufferer will find that he is confused as to the size and shape of parts of (or all of) his body. These symptoms can be alarming, causing fear, even panic. Distortions can recur several times a day and may take some time to abate.

It is often associated with migraines, brain tumors, or the use of psychoactive drugs and can also present as the initial sign of the Epstein-Barr virus or during high fever. Rest is the best treatment. If associated with migraines, treatment is the same as that for other migraine prophylaxis, including anticonvulsants, antidepressants, beta blockers, and calcium channel blockers, together with strict adherence to the migraine diet.

Jerusalem Syndrome

Jerusalem syndrome is characterized by mental phenomena that involve the presence of either religiously themed obsessive ideas, delusions, or other psychosis-like experiences that are triggered by, or lead to, a visit to the city of Jerusalem. It is not restricted to any religion or denomination.

The condition seems to emerge when people who had a history of mental illness, or who were unwell before coming to the city, visit Jerusalem. It seems to consist of usually transient psychotic delusions, which tend to dissipate within a few weeks after being removed from the area.

Symptom-based approaches or careful withdrawal of antipsychotic drugs after cessation of the psychosis in those people in whom antipsychotic treatment was needed should be attempted. However, Jerusalem syndrome needs to be distinguished from a first or recurrent psychotic disorder that requires long-term antipsychotic treatment.

Paris Syndrome

Paris syndrome is a strange condition exclusive to Japanese nationals who experience a mental breakdown while visiting the famous French capital, but it has also been observed in Japanese tourists visiting France or Spain in general. Paris syndrome appears to be a severe form of culture shock that can express itself in many different forms, including physical and emotional symptoms of anxiety, derealization, depersonalization, as well as acute delusional states, persecutory ideas, and hallucinations.

Of an estimated 6 million Japanese tourists who visit the city every year, approximately 1-2 dozen suffer this illness. Usually, people with Paris syndrome do not have a psychiatric history. Hypotheses why Japanese people are affected include their apparent suggestibility regarding an idealized image of Paris, but the confrontation with very different cultural habits, a strong language barrier, and physical and mental exhaustion have also been suspected as triggers.

Psychotherapeutic and supportive approaches should be used, and comorbid conditions should be identified and managed as appropriate.

Fugue State

Fugue state, previously also called dissociative fugue or psychogenic fugue, is a rare psychiatric disorder characterized by reversible amnesia for one's personal identity, which includes the memories, personality, belongings and other identifying characteristics of one's individuality and life. Usually, the fugue state lasts hours to days, but it has lasted for months.

The DSM-IV defines fugue state as a sudden, unexpected travel away from home or one's customary place of work, with inability to recall one's past; confusion about personal identity, or the assumption of a new identity that is associated with significant distress or impairment.

Fugues are usually precipitated by a strong emotional or physical stressor or stressful episode. After recovery from the fugue, there may be amnesia for the precipitating stressor.

Dissociative fugue usually involves unplanned travel or wandering around, sometimes accompanied by the establishment of a new identity. After recovery from fugue, previous memories usually return intact, but usually there remains complete amnesia for the fugue.

Dissociative fugue has been observed in the context of severe psychological or physical trauma, the ingestion of psychotropic substances, or a general medical condition. It has also been related to bipolar disorder, depression, delirium, and dementia.

Psychotherapeutic and supportive approaches should be used, and comorbid conditions should be identified and managed as appropriate.

Foreign Accent Syndrome

The foreign accent syndrome is a rare condition whereby someone speaks their native language as if they had a foreign accent. This syndrome usually follows a head injury, trauma, or stroke affecting the speech center of the brain.

Stockholm Syndrome

Stockholm syndrome characterizes a psychological response that can be observed seen in a victim, in which the victim shows signs of sympathy, loyalty, or even voluntary compliance with the victimizer, regardless of the risk in which the victim has been placed. The syndrome is most often discussed in the context of hostage abduction, but has also been described in relationship to rape, and spousal and child abuse. It can be understood as a severe form of reaction formation that takes place under enormous physiologic and emotional stress.

Stockholm syndrome is named after a bank robbery in Stockholm, Sweden. The bank robbers held bank employees hostage from August 23 to August 28 in 1973 and the hostages became emotionally attached to their hostage-takers. They even defended their captors after they were freed, refusing to testify against them.

A famous example of Stockholm syndrome is Patty Hearst. She was a millionaire's daughter who was kidnapped in 1974 and later took part in a robbery organized by her and her kidnapper.

As in all cases of severe trauma, psychotherapeutic and supportive approaches should be used, and comorbid conditions should be identified and managed as appropriate.

Lima Syndrome

Lima syndrome is the exact inverse of Stockholm syndrome. In this case, hostage-takers or victimizers become sympathetic to the wishes and needs of the hostages or victims.

Lima syndrome is named after the Japanese embassy hostage crisis in Lima, Peru, that lasted from December 17, 1996 until April 22, 1997. Fourteen members of the Tupac Amaru Revolutionary Movement took several hundred diplomats, government and military officials, and business executives of many countries hostage at a party that took place at the official residence of Japan's ambassador to Peru. Curiously, within a few days of the hostage crisis, the militants had released most of the captives, with seeming disregard for their importance, including the future president of Peru, and the mother of the current president.

After months of unsuccessful negotiations, all remaining hostages were freed by a raid by Peruvian commandos, although 1 hostage was killed.

It is unclear if Lima syndrome can be explained by feelings of guilt, moral indecisiveness, second guessing of one's actions, or obliviousness.

Stendhal Syndrome

Stendhal syndrome is characterized by physical and emotional anxiety up to the level of a panic attack, dissociative experiences, confusion, and even hallucinations when an individual is exposed to art. The syndrome is usually triggered by art that is perceived as particularly beautiful or when the individual is exposed to large quantities of art that are concentrated in a single place. The term can also be applied to a similar reaction to an overwhelming experience, for example when confronted with immense beauty in the natural world.

Stendhal syndrome is named after the famous 19th century French author Stendhal who described his experience with the phenomenon during his visit to Florence, Italy, in 1817, when he was 34 years old. It has also been called hyperculturemia or Florence syndrome.

Usually, Stendhal syndrome is self-limited and not followed by lasting or severe mental sequelae, and no interventions beyond supportive measures are needed.

Diogenes Syndrome

Diogenes syndrome is a condition characterized by extreme self-neglect, social withdrawal, lack of shame, apathy, and compulsive hoarding of rubbish. It is found mainly in old people and is associated with progressive dementia.

Diogenes syndrome is named after the Greek philosopher Diogenes of Sinope (412 or 404 BCE until 323 BCE), who was a Cynic and Minimalist. The philosophy of Cynicism is based on the belief that the purpose of life is to live a life of virtue in agreement with Nature. To achieve this goal, one had to reject all conventional desires for wealth, power, health, and fame, and live a simple life free from all possessions.

Diogenes took Cynicism to its logical extreme. He is said to have lived in a wine barrel on the streets of Athens, promoting ideas of nihilism and animalism. Famously, when asked by Alexander the Great, the most powerful person of that time, what he wanted most in the world, he replied, "For you to get out of my sunlight!"

The syndrome is actually a misnomer because Diogenes was not known to hoard or neglect his own hygiene and he sought discussions with other people in the Agora.

Munchausen Syndrome

Munchausen syndrome, also sometimes called hospital addiction syndrome, is named after Baron von Munchausen (1720-1797), an 18th-century German officer who was known for embellishing the stories of his life and experiences.

Munchausen syndrome is currently classified as a type of factitious disorder characterized by a person's repeatedly acting as if he or she has a physical or mental disorder when, in truth, he or she has caused the symptoms. People with factitious disorders act this way because of an inner need to be seen as ill or injured, not to achieve a concrete benefit, such as financial gain. They are even willing to undergo painful or risky tests and operations to get the sympathy and special attention given to people who are truly ill. Some will secretively injure themselves to cause signs like blood in the urine or cyanosis of a limb.

However, there is discussion to reclassify Munchausen syndrome as a somatoform disorder in DSM V because it is unclear whether people are conscious of drawing attention to themselves. While the "patient" role is familiar and comforting, filling a psychological need in people with Munchausen syndrome, the condition is different from hypochondriasis in that patients with Munchausen syndrome are aware that they are exaggerating, whereas sufferers of hypochondriasis believe they actually have a disease.

People affected by Munchausen syndrome deliberately produce or exaggerate symptoms in several ways. They might lie about or fake symptoms, hurt themselves, or change diagnostic tests. Possible warning signs of Munchausen syndrome include the following:

• Dramatic but inconsistent medical history;

• History of seeking treatment at numerous hospitals, clinics, and doctors' offices, possibly even in different cities;

• Extensive knowledge of hospitals and/or medical terminology, as well as the textbook descriptions of illnesses;

• Willingness or eagerness to have medical tests, operations, or other procedures;

• Presence of multiple surgical scars;

• Unclear symptoms that are not controllable and that become more severe or change once treatment has begun;

• Appearance of new or additional symptoms following negative test results;

• Predictable relapses following improvement in the condition;

• Presence of symptoms only when the patient is not alone or not being observed;

• Reluctance by the patient to allow healthcare professionals to meet with or talk to family, friends, or prior healthcare providers; and

• Problems with identity and self-esteem.

The exact cause of Munchausen syndrome is unknown, but a history of abuse or neglect as a child, or a history of frequent illnesses requiring hospitalization, might be factors associated with the development of this syndrome. Also, personality disorders are common in individuals with Munchausen syndrome.

Medical professionals or doctors suspecting Munchausen syndrome should first rule out the possibility that the patient does indeed have a disease but in an early stage and not yet clinically detectable. Although a person with Munchausen syndrome actively seeks treatment for the various disorders he or she invents, the person usually is unwilling to admit to and seek treatment for the syndrome itself. When treatment is initiated, the first goal is to modify the person's behavior and reduce his or her misuse or overuse of medical resources. Any underlying psychiatric disorder, such as a mood disorder, anxiety disorder, or personality disorder, should be identified and treated. As with other factitious disorders, the primary treatment for Munchausen syndrome is psychotherapy, including cognitive-behavioral therapy and family therapy.

People affected by Munchausen syndrome deliberately produce or exaggerate symptoms in several ways. They might lie about or fake symptoms, hurt themselves, or change diagnostic tests. Possible warning signs of Munchausen syndrome include the following:

• Dramatic but inconsistent medical history;

• History of seeking treatment at numerous hospitals, clinics, and doctors' offices, possibly even in different cities;

• Extensive knowledge of hospitals and/or medical terminology, as well as the textbook descriptions of illnesses;

• Willingness or eagerness to have medical tests, operations, or other procedures;

• Presence of multiple surgical scars;

• Unclear symptoms that are not controllable and that become more severe or change once treatment has begun;

• Appearance of new or additional symptoms following negative test results;

• Predictable relapses following improvement in the condition;

• Presence of symptoms only when the patient is not alone or not being observed;

• Reluctance by the patient to allow healthcare professionals to meet with or talk to family, friends, or prior healthcare providers; and

• Problems with identity and self-esteem.

The exact cause of Munchausen syndrome is unknown, but a history of abuse or neglect as a child, or a history of frequent illnesses requiring hospitalization, might be factors associated with the development of this syndrome. Also, personality disorders are common in individuals with Munchausen syndrome.

Medical professionals or doctors suspecting Munchausen syndrome should first rule out the possibility that the patient does indeed have a disease but in an early stage and not yet clinically detectable. Although a person with Munchausen syndrome actively seeks treatment for the various disorders he or she invents, the person usually is unwilling to admit to and seek treatment for the syndrome itself. When treatment is initiated, the first goal is to modify the person's behavior and reduce his or her misuse or overuse of medical resources. Any underlying psychiatric disorder, such as a mood disorder, anxiety disorder, or personality disorder, should be identified and treated. As with other factitious disorders, the primary treatment for Munchausen syndrome is psychotherapy, including cognitive-behavioral therapy and family therapy.

Munchausen Syndrome by Proxy

Munchausen syndrome by proxy (ie, through a substitute) is a type of factitious disorder in which a person acts as if an individual he or she is caring for has a physical or mental illness when the person is not really sick. The adult perpetrator has Munchausen syndrome by proxy and directly produces or lies about illness in another person under his or her care, usually a child under 6 years of age, but cases of adult victims have also been reported. Munchausen syndrome by proxy is considered a form of abuse by the American Professional Society on the Abuse of Children and occurs in about 2 out of 100,000 children.

People with Munchausen syndrome by proxy might create or exaggerate the child's symptoms in several ways. They might simply lie about symptoms, alter diagnostic tests (such as contaminating a urine sample), falsify medical records, or induce symptoms through various means, such as poisoning, suffocating, starving, and causing infection. The presenting problem may also be psychiatric or behavioral.

Common characteristics in a person with Munchausen syndrome by proxy include:

• Often a parent, usually a mother, but can be the adult child of an elderly patient;

• Might be a healthcare professional;

• Is very friendly and cooperative with the healthcare providers;

• Appears quite concerned (some might seem overly concerned) about the child or designated patient; and

• Might also suffer from Munchausen syndrome.

Other possible warning signs of Munchausen syndrome by proxy in children or cared-for adults include:

• The child has a history of many hospitalizations, often with strange symptoms;

• The child's reported condition and symptoms do not agree with the results of diagnostic tests;

• Worsening of the child's symptoms generally is reported by the mother and is not witnessed by the hospital staff;

• There might be more than 1 unusual illness or death of children in the family;

• The child's condition improves in the hospital, but symptoms recur when the child returns home;

• Blood in lab samples might not match the blood of the child; and

• There might be signs of chemicals in the child's blood, stool, or urine.

People with Munchausen syndrome by proxy have an inner need for the person they care for to be seen as ill or injured. The lying, fabrication of symptoms or harm is not done to achieve a concrete benefit, such as financial gain. People with Munchausen syndrome by proxy are willing to have the person under their care undergo painful or risky tests and operations to get the sympathy and attention given to people whose family member is truly ill. People who perpetrate this type of abuse are often affected by concomitant psychiatric problems, like depression, spouse abuse, psychopathy, or psychosis.

Etiologic and treatment considerations are identical to those in Munchhausen syndrome. The major difference lies in the fact that the first concern is to ensure the safety and protection of any real or potential victims. This might require that the child or elderly be placed in the care of others. Management often requires a team that includes social workers, foster care organizations, and law enforcement in addition to the healthcare providers. Successful treatment of people with Munchausen syndrome by proxy is difficult because those with the disorder often deny there is a problem.

Apotemnophilia and Acrotomophilia

Apotemnophilia, also known as body integrity identity disorder or amputee identity disorder, is most likely a neurologic disorder in which a person has the overwhelming desire to amputate healthy limbs or other parts of their body. Most date this desire to their childhoods and most often do not suffer from other psychological problems. In extreme cases, sufferers amputate their own limbs or ask others to do this for them. Because few surgeons are willing to amputate healthy limbs, this often means that the patients themselves will attempt to irrevocably damage the limb in question, necessitating formal amputation. After amputation, most report to being happy with their decision and often state, paradoxically, that they are now "complete." In addition, body integrity identity disorder also applies to people who wish to alter their bodily integrity in general.

Apotemnophilia is hypothesized to be related to right parietal lobe damage because the disorder has features in common with somatoparaphrenia, a type of monothematic delusion secondary to parietal lobe injury where the afflicted person denies ownership of a limb or an entire side of one's body.

The major problem in providing treatment is that most people with apotemnophilia do not seek professional treatment for their condition. Cognitive behavioral and aversion therapies have been tried.

Acrotomophilia is a form of sexual fetishism whereby the person without amputation or the wish to be amputated has a strong erotic interest in other people who are missing limbs. In the body integrity identity disorder community, these people are referred to as devotees. However, there might be some relationship between the 2 disorders, with some individuals exhibiting both conditions.