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Weirdest Diseases – Part X – Epidermolysis Bullosa
Epidermolysis bullosa (EB) is a group of inherited bullous disorders characterized by blister formation in response to mechanical trauma. Historically, epidermolysis bullosa subtypes have been classified according to skin morphology.
Epidermolysis bullosa - squamous cell carcinoma
Recent discoveries of the molecular basis of epidermolysis bullosa have resulted in the development of new diagnostic tools, including prenatal and preimplantation testing. Based on a better understanding of the basement membrane zone (BMZ) and the genes responsible for its components, new treatments (eg, gene or protein therapy) may provide solutions to the skin fragility found in patients with epidermolysis bullosa.
Pathophysiology
Epidermolysis bullosa is classified into 3 major categories, including (1) epidermolysis bullosa simplex (intraepidermal skin separation), (2) junctional epidermolysis bullosa (skin separation in lamina lucida or central BMZ), and (3) dystrophic epidermolysis bullosa (sublamina densa BMZ separation).
Researchers have proposed a new category termed hemidesmosomal epidermolysis bullosa, which produces blistering at the hemidesmosomal level in the most superior aspect of the BMZ. Epidermolysis bullosa simplex usually is associated with little or no extracutaneous involvement, while the more severe hemidesmosomal, junctional, and dystrophic forms of epidermolysis bullosa may produce significant multiorgan system involvement.
Significant progress has been achieved in finding specific molecular therapies for epidermolysis bullosa, including protein and gene therapy. Type VII collagen and laminin-5 gene therapy have been proven effective through in vivo models. Type VII collagen protein therapy has similarly been shown to be effective in an in vivo model. Currently, these therapies are being extensively studied at the preclinical stage, in animal models.
![Recessively inherited dystrophic epidermolysis bullosa, oral cavity blistering and scarring [ CLOSE WINDOW ] Recessively inherited dystrophic epidermolysis bu... Recessively inherited dystrophic epidermolysis bullosa, oral cavity blistering and scarring](http://www.citeste-ne.ro/wp-content/uploads/Recessively-inherited-dystrophic-epidermolysis-bullosa-oral-cavity-blistering-and-scarring.jpg)
Recessively inherited dystrophic epidermolysis bullosa, oral cavity blistering and scarring
Frequency
United States
Assuming that mild cases of epidermolysis bullosa simplex are reported only 10% of the time, the affected population in the United States is approximately 12,500 persons. According to a National Epidermolysis Bullosa Registry report, 50 epidermolysis bullosa cases occur per 1 million live births. Of these cases, approximately 92% are epidermolysis bullosa simplex, 5% are dystrophic epidermolysis bullosa, 1% are junctional epidermolysis bullosa, and 2% are unclassified. Patients with hemidesmosomal epidermolysis bullosa probably constitute much less than 1% of total epidermolysis bullosa cases.
International
According to the National Epidermolysis Bullosa Registry, the number of epidermolysis bullosa cases in Norway is 54 cases per million live births, in Japan is 7.8 cases per million live births, and in Croatia is 9.6 cases per million live births.
Mortality/Morbidity
Infancy is an especially difficult time for epidermolysis bullosa patients. Generalized blistering caused by any subtype may be complicated by infection, sepsis, and death. Severe forms of epidermolysis bullosa increase the mortality risk during infancy. Patients with the Herlitz or letalis form of junctional epidermolysis bullosa have the highest risk during infancy with an estimated mortality rate of 87% during the first year of life. In patients with epidermolysis bullosa that survive childhood, the most common cause of death is metastatic squamous cell carcinoma (SCC),
This skin cancer occurs specifically in patients with recessively inherited epidermolysis bullosa who most commonly are aged 15-35 years. In contrast, dominantly inherited epidermolysis bullosa simplex and dystrophic epidermolysis bullosa and milder forms of junctional epidermolysis bullosa may not affect a patient’s life expectancy adversely.
One study reported that from 1979-2002, the overall age-adjusted annual mortality rate from bullous skin diseases 0.103 death per 100,000 population (2000 US standard population).
Age
Onset of epidermolysis bullosa is at birth or shortly after. The exception occurs in mild cases of epidermolysis bullosa simplex, which may remain undetected until adulthood or occasionally remain undiagnosed.
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How to Have a Lucid Dream – Wake up in a Dream – Part I
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Lucid dreaming need not be elusive. Some simple techniques can make it possible for almost anyone.
Lucid dreaming
Lucid dreaming can be a very powerful experience for the dreamer. “You can be the absolute master of your dream world,” says MortalMist.com, a website and forum dedicated to lucid dreaming. “The very laws of nature can be bent and broken. No experience is beyond your reach, no feat too difficult or risky. If you can imagine it, you can make it happen.”
Many people report wonderful experiences in the dream worlds they’ve created. For some, though, lucid dreaming remains elusive. But there is good news; becoming skilled at “waking up” in a dream may be easier than it seems. There are several techniques that can be used to enter the world of lucid dreaming.
Lucid dreaming requires three things:
- the ability to recall dreams,
- a technique, known as a reality check, to become aware of dreaming, and
- strategies to remain in the dream.
Tips for Recalling Dreams
Everyone dreams, but not everyone remembers his or her dreams. Sometimes even people who revel in dream recall go through periods where they can’t remember dreams. But that doesn’t mean lucid dreaming is lost to those who have trouble remembering dreams.
Dream recall is a skill that improves with practice. In fact, improved dream recall can happen readily, and all it requires is lying in bed, according to Ryan Dungan Hurd, editor of DreamStudies.org and a member of the International Association for the Study of Dreams.
Hurd suggests that people use the Snooze Method for Dream Recall. The name of the method may seem strange, but most find that it’s a fairly easy way to remember dreams.
He explains that when people wake up, they usually change their body position almost immediately. “This actually dispels the body’s emotional traces of the last dream….And it’s totally over for remembering dreams once we start thinking about the day ahead.”
Hurd believes that memory traces are not just stored in the brain; he says they can be stored virtually anywhere in the body. The lungs, the belly, and the heart are among the largest of these body-cognition centers, and they process memory and emotion. He notes that people can use this same natural capacity of the body to help remember dreams, too.
So, to improve dream recall, remain in position upon waking; avoid moving into a new position. Then, actively attempt to recall the dream. If no images come, one may try focusing on any emotional residue that the dream may have left behind.
Once the dream is remembered, record it in a journal kept near the bed.
NASA: Alertă de furtună geo-magnetică
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NASA a emis o alertă de furtună geo-magnetică provocată de o masă uriaşă de particule solare degajate de două explozii recente.
Potrivit datelor de pe satelitul STEREO, plasma ejectată se deplasează cu o viteză de 410 kilometri pe secundă
Una dintre explozii, cea mai mare, s-a produs luni 14 februarie şi a trimis spre Pământ o masă însemnată de particule şi radiaţii. Imensa furtună solară declanşată poate afecta câmpul magnetic al Terrei.
Norul imens de particule încărcate electric se deplasează cu viteză spre planeta noastră, timpul parcurgerii distanţei fiind de aproximativ 24 de ore.
Explozia solară, cea mai puternică înregistrată în ultimii patru ani, a fost catalogată de astronomi ca aparţinând clasei X – cel mai puternic tip de pe scara de măsură. Ea este prima de acest fel din noul ciclu de activitate solară, început în 2011 şi cu un maxim estimat a se produce în 2013.
Profesorul doctor George Iana, şeful secţiei Radiologie şi imagistică medicală în cadrul Spitalului Universitar de Urgenţă Bucureşti, spune că, pentru a vorbi despre consecinţele acestui fenomen trebuie să ştim spectrul electromagnetic al benzii de radiaţii.
Dacă sunt semnalaţi fotoni – ceea ce pot preciza fizicenii, atunci există un potenţial iradiant.
Consecinţele sunt indirecte. În primul rând, populaţia trebuie să fie informată asupra concentraţiei de iradiaţii din atmosferă. Pentru că, în mod curent, există un fond de radiaţii. Dacă acesta este de 4-7 ori mai mare decât în mod curent, atunci pot fi afectate pielea şi organele vitale.
Efectele se înregistrează în timp, în special prin apariţia de malformaţii, aşa cum s-a întâmplat în cazul exploziei de la Cernobîl.
Dacă fenomenul este asociat cu lumină vizibilă înseamnă că există o concentraţie mare de energie care poate provoca arsuri ale pielii. Dacă fenomenul este însoţit de unde radio, acestea generează dureri de cap, stări de vomă, agitaţie, creşterea tensiunii arteriale.
Profesorul doctor George Iana consideră că, decomadată nu sunt motive de îngrijorare, dacă Inspectoratul pentru situaţii de urgenţă şi controlul mediului nu a emis avertismente. Totuşi, profesorul Iana recomandă femeilor însărcinate şi tinerilor să stea mai puţin afară în aceste zile.
Morgellons Disease
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Morgellons disease is a mysterious skin disorder characterized by disfiguring sores and crawling sensations on and under the skin. Although Morgellons disease isn’t widely recognized as a medical diagnosis, experts from the Centers for Disease Control and Prevention (CDC) are investigating reports of the condition, which they refer to as unexplained dermopathy.
Morgellons Disease
If you suspect that you have Morgellons disease, you may have many questions about the condition. Here’s what you need to know about Morgellons disease, including practical tips for managing your signs and symptoms.
What are the signs and symptoms of Morgellons disease?
People who have Morgellons disease report the following signs and symptoms:
- Skin rashes or sores that can cause intense itching
- Crawling sensations on and under the skin, often compared to insects moving, stinging or biting
- Fibers, threads or black stringy material in and on the skin
- Severe fatigue
- Inability to concentrate and short-term memory loss
- Behavioral changes
- Joint pain
- Vision changes
Morgellons disease shares characteristics with various recognized conditions, including Lyme disease, liver or kidney disease, schizophrenia, drug or alcohol abuse, and a mental illness involving false beliefs about infestation by parasites (delusional parasitosis).
How widespread is Morgellons disease?
Reports of Morgellons disease have been made in every state in the United States and 15 countries around the world. Most reported cases are clustered in California, Texas and Florida.
What do researchers know about Morgellons disease?
Beyond anecdotal reports, researchers know little about Morgellons disease. The CDC reports no known causes of Morgellons disease and no successful treatment for the condition. Whether Morgellons disease is contagious remains a mystery.
How controversial is Morgellons disease?
Current attitudes toward Morgellons disease fall into various categories:
- Some health professionals believe that Morgellons disease is a specific condition that needs to be confirmed by future research.
- Some health professionals believe that signs and symptoms of Morgellons disease are caused by another condition, often mental illness.
- Other health professionals don’t acknowledge Morgellons disease or are reserving judgment until more is known about the condition.
Some people who suspect Morgellons disease claim they’ve been ignored, criticized as delusional or dismissed as fakers. In contrast, some doctors say that people who report signs and symptoms of Morgellons disease typically resist other explanations for their condition.
How can you cope with the signs and symptoms of Morgellons disease?
The signs and symptoms linked to Morgellons disease can be distressing. Even though health professionals disagree about the nature of the condition, you deserve compassionate treatment. While research continues, take positive steps to manage your signs and symptoms.
- Establish a caring health care team. Find a doctor who acknowledges your concerns and does a thorough examination. Since Morgellons disease often requires frequent follow-up visits, a local health care team may be most convenient.
- Be patient. Your doctor will likely look for known conditions that point to evidence-based treatments before considering a diagnosis of Morgellons disease.
- Keep an open mind. Consider various causes for your signs and symptoms, and follow your doctor’s recommendations for treatment — which may include long-term mental health therapy.
- Seek treatment for other conditions. Get treatment for anxiety, depression or any other condition that affects your thinking, moods or behavior.
- Keep track of the latest news about Morgellons disease. Supplement the information you find online with articles published in peer-reviewed medical journals. Remember that some sources are more reputable than are others.
Guvernul interzice înfiinţarea farmaciilor în gări, aerogări şi mall-uri
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Executivul a decis să interzică înfiinţarea farmaciilor în gări, aerogări şi centre comerciale, considerând că numărul acestora în zonele urbane este suficient de mare, astfel că nu se mai justifică deschiderea altora mai ales în magazine mari. Decizia a fost luată în şedinţa de marţi a Guvernului.
Guvernul interzice înfiinţarea farmaciilor în gări, aerogări şi mall-uri
“O reglementare aprobată de Guvern prevede eliminarea posibilităţii de înfiinţare a farmaciilor suplimentare în gări, aerogări şi centre comerciale, ca excepţie. Această reglementare este în vigoare din 2005, iar dacă atunci erau 39 de farmacii, în 2010 am ajuns la 728 de farmacii înfiinţate prin excepţie. Din punctul nostru de vedere, în marea parte a localităţilor urbane numărul de farmacii este suficient şi nu se mai justifică înfiinţarea acestora, mai ales prin excepţii, în centre comerciale de mare suprafaţă“, a spus ministrul Sănătăţii, Attila Cseke.
Guvernul a mai decis ca prevederile privind deschiderea unor farmacii pe baza unor criterii demografice să fie menţinute încă doi ani, până la 31 decembrie 2012. Acest criteriu reglementează înfiinţarea farmaciilor comunitare în mediul urban, respectiv o farmacie la 4.000 de locuitori în Bucureşti, o farmacie la 3.500 locuitori în municipiile reşedinţă de judeţ şi o farmacie la 3.000 locuitori în celelalte oraşe.
Întrebat de jurnalişti dacă prevederea ca farmacistul să aibă farmacie în proprietate rămâne în vigoare, ministrul a răspuns negativ, spunând că, în urma observaţiilor primite de la alte ministere, aceste prevederi nu au fost introduse în proiect.
“În mediul urban, media este de o farmacie la 2.485 de locuitori, iar media europeană este de 3.400. Noi avem prea multe farmacii în mediul urban şi prea puţine în cel rural, este foarte greu de remodelat. Dacă erau stabilite de la început criterii pe urban şi rural, azi nu avem asemenea situaţii. Interesul nostru este de a deschide farmacii în rural”, a adăugat ministrul Sănătăţii.
Stem Cell Transplant Cures HIV In ‘Berlin Patient’
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On the heels of World AIDS Day comes a stunning medical breakthrough: Doctors believe an HIV-positive man who underwent a stem cell transplant has been cured as a result of the procedure.
Stem cell transplant
Timothy Ray Brown, also known as the “Berlin Patient,” received the transplant in 2007 as part of a lengthy treatment course for leukemia. His doctors recently published a report in the journal Blood affirming that the results of extensive testing “strongly suggest that cure of HIV infection has been achieved.”
Brown’s case paves a path for constructing a permanent cure for HIV through genetically-engineered stem cells.
Last week, Time named another AIDS-related discovery to its list of the Top 10 Medical Breakthroughs of 2010. Recent studies show that healthy individuals who take antiretrovirals, medicine commonly prescribed for treating HIV, can reduce their risk of contracting the disease by up to 73 percent.
While these developments by no means prove a cure for the virus has been found, they can certainly provide hope for the more than 33 million people living with HIV worldwide. Alongside such findings, global efforts to combat the epidemic have accelerated as of late, with new initiatives emerging in the Philippines and South Africa this week.
Băsescu: Ar fi o greşeală imensă ca romii să-şi schimbe denumirea în ţigani
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Preşedintele Traian Băsescu susţine că nu va promulga niciodată legea care schimbă denumirea ţiganilor din rom în ţigan, într-un interviu pentru publicaţia Financial Times. Şeful statului spune că nu e de acord ca romii să-şi schimbe denumirea în ţigani, aşa cum a propus un parlamentar PDL şi cum a susţinut şi Guvernul.
Traian Băsescu
Traian Băsescu crede că trebuie păstrată în continuare denumirea de rom. “Cred că e o greşeală imensă. Nu voi promulga niciodată o astfel de lege. Politicienii ar trebui să se concentreze mai bine pe crearea unor oportunităţi de educaţie şi pe găsirea unor modalităţi de a arăta lumii bogăţia culturii rome“, a declarat şeful statului pentru sursa citată.
Deputatul PDL Silviu Prigoană a fost cel care a depus un act normativ la Parlament, pentru schimbarea denumirii în ţigani, iar propunerea a primit sprijinul Guvernului Boc. Traian Băsescu a precizat şi că expulzarea romilor din Franţa în România este o eroare a guvernului francez.
“Considerăm că Rămânia a intrat în UE nu doar cu doctorii săi, care sunt foarte apreciaţi (…). Am intrat împreună cu o minoritate de romi. Şi ne-am bucura daca preşedintele Sarkozy ar trimite un doctor sau un specialist IT înapoi în ţară, de fiecare dată când repatriază un rom. Dar, dacă asta nu se întâmplă, am dori să cooperăm cu Franţa pentru găsirea unor soluţii“, a precizat preşedintele Traian Băsescu.
În 2011, România va înregistra o creştre economică de 1,5 procente
“2009 a fost un an de creştere negativă de 7,4 procente, şi în 2010 vom avea o creştere negativă de 1,9 procente. Estimările pentru 2011 sunt pentru o creştere de 1,5 procente, aceasta este evaluarea Fondului Monetar Internaţional şi a Uniunii Europene iar evaluarea noastră este că vom avea o creştere uşoară care va fi bazată în principal pe investiţii“, a mai declarat preşedintele Traian Băsescu pentru Financial Times.
Potrivit acestuia, investiţiile vor veni în primul rând via fonduri comunitare. “Am selectat deja o serie de proiecte care vor fi implementate în cursul anului următor, este vorba de mari proiecte de infrastructură în principal în domeniul transporturilor şi mediului’, a declarat Traian Băsescu. Preşedintele a adăugat că investiţiile vor fi posibile şi graţie consolidării fiscale, care a avut loc în acest an. ‘Anul trecut am avut un deficit bugetar de 7,8 procente, în acest an vom atinge obiectivul fixat la 6,8 procente. În 2011 deficitul bugetar va fi de 4,4 procente, urmând ca în 2012 să ajungem la un deficit de trei procente“, a precizat preşedintele României.
Întrebat dacă România va încerca să obţină un nou acord, de tip preventiv, cu FMI la expirarea actualului acord, preşedintele Traian Băsescu a precizat că obiectivul României este în primul rând finalizarea actualului acord, care expiră în luna aprilie 2011, adăugând că un eventual acord preventiv va trebui să se concentreze pe realizarea procesului de integrare în Uniunea Europeană, utilizând fonduri europene, prin creşterea flexibilităţii administraţiei şi pieţei muncii. “Acest acord preventiv cu FMI şi UE poate proteja România chiar de proprii politicieni, de populism, care poate creşte în orice moment în România, în parlamentul României“, a apreciat Traian Băsescu.
Anterior, Preşedintele Traian Băsescu a declarat, luni, la debutul consultărilor cu partidele din arcul guvernamental, că jocul politic din România şi neîndeplinirea tuturor condiţiilor din acordul financiar încheiat cu Fondul Monetar Internaţional riscă să arunce ţara într-un derapaj.
Congenital Insensitivity To Pain – People Who Can’t Feel Pain – CIPA
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CIPA or congenital insensitivity to pain is one of the rarest diseases in the world. A very rare condition and it is also known as congenital analgia. People diagnosed with this condition have their pain sensors turned off and they can’t feel any pain. The condition is extremely dangerous as these people are prone to danger not knowing the level of pain inflicted.
Congenital Insensitivity To Pain – People Who Can’t Feel Pain
What caused the disorder? It is an unknown condition when the brain that recognizes the pain does not connect to the nerves that sense the pain. This unknown condition only happens to the pain sensors. People with CIPA have their other sensory areas completely checked and normal. Incredibly a rare disease, 35 people in the United States is diagnosed with CIPA. Sadly, people with CIPA has low survival rate and many doesn’t live that long to the age of 25 making the case a difficult case to study.
Pains are relatively a unique sense. It keeps us out of trouble, our body defense against harmful actions and not being able to feel pain is totally dangerous. Children especially will need to know how to sense this pain. We need to know what we should or shouldn’t do when we feel pain and we also know how not to cause pain to ourselves. Pain can help you to avoid danger and what causing this danger.
Anhidrosis, a condition of the body’s inability to sweat is found in people with CIPA. This condition can worsen the issue. With Anhidrosis, people with CIPA are not able to feel extreme temperature. Together with this and the body’s inability to sweat only means that their body is unable to regulate its temperature.
Proper attention should be made to the children with CIPA. They need to be watched more often than the normal children and may need regular checks to the doctor to see whether they are not suffering from anything that they may not be aware of. To make sure that nothing is bleeding or there’s an open cut, they should be constantly checked since they are unable to differentiate this pain from other feelings.
In a case involving CIPA, a little girl who was three years old burnt her skin from a hot oven. The little girl put her hand on the hot oven and smiling with her blood all over the kitchen. The parents who found her were shocked. It is also known that when this little girl began teething, she shredded her own lips too.
Another case in China showed a perfectly healthy 10 year old boy with a body temperature of 43 degrees. In another case in Iraq, a boy who is awake for more than 2 years without sleeping. There are many of other cases of children with CIPA condition.
Congenital insensitivity to pain is very serious. Few people with CIPA do not live to see age 25 because these people can’t feel pain. They may catch simple illness and unknowingly catching few other simple illnesses along the way but was unable to get proper treatments since they can’t feel this pain. Their body too was unable to tell them and that’s why CIPA is the rarest disease in the world with no cure yet.
18 Health Tricks to Teach Your Body – Part I
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Cure a Tickling Throat
Doctor Checking the Blood Pressure of a Patient
When you were 9, playing your armpit was a cool trick. Now, as an adult, you can still appreciate a good body-based feat, especially if it serves as a health remedy. Take that tickle in your throat: It’s not worth gagging over. Here’s a better way to scratch your itch: Scratch your ear. “When the nerves in the ear are stimulated, it creates a reflex in the throat that can cause a muscle spasm,” says Scott Schaffer, M.D., president of an ear, nose, and throat specialty center in Gibbsboro, New Jersey. “This spasm relieves the tickle.”
Experience Supersonic Hearing
If you’re stuck chatting up a mumbler at a cocktail party, lean in with your right ear. It’s better than your left at following the rapid rhythms of speech, according to researchers at the UCLA David Geffen School of Medicine. If, on the other hand, you’re trying to identify that song playing softly in the elevator, turn your left ear toward the sound. The left ear is better at picking up music tones.
Overcome Your Most Primal Urge
Need to pee? No bathroom nearby? Fantasize about Jessica Simpson. Thinking about sex preoccupies your brain, so you won’t feel as much discomfort, says Larry Lipshultz, M.D., chief of male reproductive medicine at the Baylor College of Medicine. For best results, try Simpson’s “These Boots Are Made for Walking” video.
Feel No Pain
German researchers have discovered that coughing during an injection can lessen the pain of the needle stick. According to Taras Usichenko, author of a study on the phenomenon, the trick causes a sudden, temporary rise in pressure in the chest and spinal canal, inhibiting the pain-conducting structures of the spinal cord.
Clear Your Stuffed Nose
Forget Sudafed. Here’s an easier, quicker, and cheaper remedy to relieve sinus pressure: Alternate thrusting your tongue against the roof of your mouth, then pressing between your eyebrows with one finger. This causes the vomer bone, which runs through the nasal passages to the mouth, to rock back and forth, says Lisa DeStefano, D.O., an assistant professor at the Michigan State University college of osteopathic medicine. The motion loosens congestion; after 20 seconds, you’ll feel your sinuses start to drain.
Fight Fire Without Water
Worried those wings will repeat on you tonight? Try this preventive remedy: “Sleep on your left side,” says Anthony A. Starpoli, M.D., a New York City gastroenterologist and assistant professor of medicine at New York Medical College. Studies have shown that patients who sleep on their left sides are less likely to suffer from acid reflux. The esophagus and stomach connect at an angle. When you sleep on your right, the stomach is higher than the esophagus, allowing food and stomach acid to slide up your throat. When you’re on your left, the stomach is lower than the esophagus, so gravity’s in your favor.
Trichotillomania
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Trichotillomania is hair loss from compulsive pulling or twisting of the hair until it breaks off.
Trichotillomania
Causes
Trichotillomania is a type of compulsive behavior. Its causes are not clearly understood.
It may affect as much as 4% of the population. Women are four times more likely to be affected than men.
Symptoms
Symptoms usually begin before age 17. The hair may come out in round patches or across the scalp. The effect is an uneven appearance. The person may pluck other hairy areas, such as the eyebrows, eyelashes, or body hair.
These symptoms are usually seen in children:
- An uneven appearance to the hair
- Bare patches or all around (diffuse) loss of hair
- Bowel blockage (obstruction) if people eat the hair they pull out
- Constant tugging, pulling, or twisting of hair
- Denying the hair pulling
- Hair regrowth that feels like stubble in the bare spots
- Increasing sense of tension before the hair pulling
- Other self-injury behaviors
- Sense of relief, pleasure, or gratification after the hair pulling
Exams and Tests
People with this disorder often will first seek the help of a doctor who treats skin problems (dermatologist).
A piece of tissue may be removed (biopsy) to rule out other causes, such as a scalp infection, and to explain the hair loss.
Treatment
Experts don’t agree on the use of medication for treatment. However, naltrexone and selective serotonin reuptake inhibitors (SSRIs) have been shown effective in reducing some symptoms. Behavioral therapy and habit reversal may also be effective.
Outlook (Prognosis)
Typically, trichotillomania is limited to younger children who tend to outgrow the behavior. For most, the hair pulling ends within 12 months. Children who start pulling hair early (before age 6) tend to do better than those who start later.
Possible Complications
People can have complications when they eat the pulled-out hair (trichophagia). This can cause a blockage in the intestines or lead to poor nutrition.
Prevention
Early detection is the best form of prevention because it leads to early treatment. Decreasing stress can help, because stress may increase compulsive behavior.
Alternative Names
Trichotillosis; Compulsive hair pulling.
Möbius Syndrome
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Background
Möbius syndrome is due, in part, to loss of function of motor cranial nerves. Although von Graefe described a case of congenital facial diplegia in 1880 , the syndrome was reviewed and defined further by Paul Julius Möbius, a German neurologist, in 1888 and 1892. Because of these contributions, Möbius is now the eponym used to describe the syndrome. p
Möbius Syndrome
The definition and diagnostic criteria for Möbius syndrome vary among authors. Both von Graefe and Möbius accepted only cases with both congenital facial diplegia and bilateral abducens nerve palsies as constituting M ö bius syndrome. In 1939, Henderson broadened the definition and included cases with congenital unilateral facial palsy.
Other authors are more restrictive in attempts to eliminate conditions of a different pathogenesis being labeled as Möbius syndrome. These investigators require the presence of a congenital musculoskeletal anomaly in order to make the diagnosis. In most studies, Möbius syndrome is defined as congenital facial weakness combined with abnormal ocular abduction.
Pathophysiology
The complete pathophysiological description of Möbius syndrome remains elusive. Whether nerve, brainstem, or muscle aplasia is the primary event has not been established. Nerves that may be involved include cranial nerves (CNs) VI through XII, with general sparing of CN VIII. CN III and CN IV can be involved, but only rarely. The facial nerves (CN VII) are involved in all cases, the abducens nerves (CN VI) in a high percentage of cases (75%), and the hypoglossal nerves (CN XII) in only a minority of cases.
Numerous theories exist concerning the primary underlying pathogenesis. Möbius believed that the condition was degenerative or toxic in origin and that it involved the nuclei of the affected nerves. Some authors suggest that the underlying problem is an inherited congenital hypoplasia or agenesis of the cranial nerve nuclei. Approximately 2% of cases appear to have a genetic basis. In addition, theories of vascular etiologies of the syndrome have many proponents. One such theory involves disruption of flow in the basilar artery or premature regression of the primitive trigeminal arteries. A second vascular theory is a disruption of the subclavian artery supply that involves interruption of the embryonic blood supply. Still others view Möbius syndrome as a mesodermal dysplasia involving musculature derived from the first and second branchial arches. This theory holds that brainstem changes are secondary to retrograde atrophy of the cranial nerves.
Simultaneous limb malformations with cranial nerve dysfunction suggests a disruption of normal morphogenesis during a critical period in the development of the embryonic structures of these regions, most likely at 4-7 weeks of gestation.
Frequency
United States
Möbius syndrome is a rare disorder. Only approximately 300 cases have been described in the English-language literature. The prevalence in the United States is reported as 0.002-0.0002% of births, or 1 case per 50,000 newborns.
International
In a nationwide Dutch survey reported in 2003, the prevalence of Möbius syndrome was at least 0.002% of births (4 cases per 189,000 newborns) for the years 1996-1998.
Mortality/Morbidity
Feeding problems at birth and in infancy may be severe and often are aggravated by associated micrognathia. In severe cases, death may occur in the perinatal period, often as a result of respiratory or bulbar problems. Life expectancy may be normal in patients with less extensive brainstem involvement.
- In a series from the Hospital for Sick Children in London, England, 8 of 29 patients died over the course of 18 years. All deaths occurred shortly after birth. Four of the deaths were due to respiratory or bulbar problems.
- Another striking feature causing morbidity in persons with Möbius syndrome is the high incidence of associated congenital deformities. The most common deformity is clubfoot. Brachial deformities and pectoral muscle hypoplasia have been described.
- A congenital condition called the Poland sequence, characterized by partial or complete absence of the pectoralis muscles and breast and ipsilateral hand malformations, is concurrent with Möbius syndrome in approximately 15% of patients.
Race
No racial predilection is described.
Sex
Both sexes are equally affected.
Age
Möbius syndrome is congenital, and most cases are diagnosed during infancy. The disease is not progressive, and the patient’s presentation is generally based on the severity of the symptoms.
