Bizarre medical conditions

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W e l c o m e A l l

Transcript of Bizarre medical conditions

Page 1: Bizarre medical conditions

W e l c o m e A l l

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Bizarre Medical

Conditions

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Prosopagnosia (face blindness)

• Prosopagnosiacs are often seen as absent-minded or conceited due to not recognizing known faces

• Staying home; antisocial, embarrassed and stressed• Movies are difficult to follow, as an actor changes

clothes, he becomes unidentifiable

Causes: br. damage/hereditary. Other visual processing and intellect remain intact. Fusiform gyrus is affected

• No cure! They recognize faces by "piecemeal" or "feature-by-feature“ strategies: clothing, gait, hair color, body shape, voice. They can also have difficulty to keep track of information about people

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William Bradley "Brad" PittAmerican actor

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Crown Princess of Sweden: Victoria Ingrid Alice Désirée

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Dame Jane M Goodall

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Odontoma: benign tumour (dental hamartoma)

• Average 14y. Often with 1 or more unerupted teeth. Mostly within jaw but may be oral cavity

• 2 types: compound and complex• Compound: enamel, dentin and cementum• Complex: unrecognizable. Ashik with it had a new world

record when he needed 232 teeth removed

SS: dysphagia, lumps in gums, pain

• Both genders. Mostly teenagers

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Klippel-Trenaunay syn. (KTS)• 3 main effects: a port-wine stain, varicose v., and an

enlarged limb or other body part (part of torso or a single buttock); other times, fingers on 1 hand are over/under- sized, or the head is larger/smaller

• No cause! may be abnormalities in developing BV, or abnormal pressures on fetus, causing more blood flow to some areas and less in others. May run in families.

• Most live normal lives, if mobility isn't greatly affected. In some: ulcers, inf. or complications from misshaped veins cause problems. Affect 1/100,000

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KTS: port-wine stain, varicose v, enlarged 1 body part

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KTS: Billy Corgan: rocker

KTS: John Patterson: rocker

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KTS: Casey Martin: American golfer

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Proteus syndrome

Greek god Proteus, was able to change body into different shapes to escape from enemies

• Atypical dev. of bone and tissue, resulting in overgrowth of hands, feet, skull and often 1 entire side. Multiple benign tumors and raised rough skin

• V. Rare: first in 1970s, 100-200 cases• No cure. Multidisciplinary approach• C/by several different genes

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Many tissues grow more: skin, muscle, BV and bones. Not at birth, but later various asymmetrical tumors and growths begin to develop, leading to a bizarre appearance

The famous “Elephant Man” Joseph Merrick is thought to have had it. His sad story proved that behind physical irregularities there is often a strong and courageous soul

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Frégoli syn. (delusion) • Or ‘the delusion of doubles’• Italian actor Leopoldo Fregoli, renowned for his

quick changes of appearance during his stage act• They believe that people they know have switched

bodies (and possibly gender/ethnicity), but not personality and identity

• Alzheimer or TBI, stroke, epilepsy, Levodopa, are the likeliest

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Italian actor Leopoldo Fregoli, his ability to instantly shift into different roles and identities

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• Some pts. believe the person's shape has shifted (or is still shifting), while others believe the loved one's identity or personality has been replicated into another body

• S/he might go to a post office and be surprised to learn that his/her mother had taken the form of the worker; even worse, on exit, would realize mother has changed form again, and is now the man starting a car. As you summon the police to report this, you would be dismayed to realize the 2 officers who show up to take your report are in fact your mother and your neighbor

• Rx: some improvement with antidepressants, -psychotics

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Capgras Delusion• Like the Fregoli, here are problems identifying people• They say strangers as people they know, but believe that

they have been replaced by doppelgangers: identical looking, yet completely different, impostors

• It can be found in connection with schizophrenia, dementia, TBI and migraine

• Interestingly, women are more

• Perhaps Invasion of the Body Snatchers Film was inspired by such a disorder

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Aquagenic urticaria: water allergy/urticaria

• Women more. Usually at puberty. All/just parts of body may react to water in any forms; sweating, crying or rain drops! Some can't even drink it: wheeze or dysphagia

• British: Micaela Dutton couldn’t even hold her boy as if he started sweating she would break out with incredibly painful rash: “ I get covered in sore lumps.” “I am a prisoner in my own body”. “I don't see friends as they wrongly think it's contagious”

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Breaking out in painful, burning welts every time skin is touched by water

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Ashleigh, 19: AU x5y. even getting caught in rain – could be an agony; can continue for 2h. They certainly have no cause to be singing in the rain …

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Cold urticaria: • We get goosebumps in cold weather; but breaking out in

hives is another matter

• People with CU are allergic to cold• Mostly mild itch. But some suffer from severe welts on any

part of body exposed to cold: even mouth and throat when cold drinks are taken

• Some with severe CU can't go swimming, as cool water could cause them shock and drowning

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Even a snowflake in the face could cause severe itch and a major exposure could lead to shock and eventually death

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Cold Immunity: Strong resistance to cold

• Wim Hof: no one knows as to how he endures it. Guinness WR holder: immersed, nearly naked, in ice for 72min

• Jan 1999: he went north of Arctic Circle to run a half marathon in his bare feet

• 3y later, with only a swimsuit, he dived under ice at N Pole and earned GWR for the longest swimming under the ice

• He climbed Everest in his shorts. Dozens nearly died

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Wim Hof of Netherlands baffled us as he climbs Everest with nothing but shorts on. Cold has nothing to do with him

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Wim Hof, 49, The Man Who Never Gets Cold

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Alice in Wonderland Syn.• Objects appear much small or larger than actual: dogs the

size of mice, or ladybugs as big as a house – you're either on drugs or experiencing, a temporary condition that affects our perception of the world around us

• May be with migraines and often at the edge of sleep, disturbances affect sense of size, depth and even time. Probably from visual cortex. Also, s/he will misperceive passage of time and sense of hearing and touch

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“Werewolf Syn.” (Hypertrichosis)

• Women may pluck eyebrows for a few unsightly stray hairs, but these pts. have abnormal hair growth covering body. Faces can be fully covered (so “werewolf syn.)” 50 cases

• Congenital/acquired– Cong.: genetic mutations – Acquired: anti-balding Rx (be careful what you wish

for…), or effect of Ca and others). May be idiopathic

• Rx: hair removal, though even waxing and laser Rx typically don’t provide long-lasting results

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“Werewolf Syn.”: Pruthviraj Patil: 11y. Whole body

covered with hair except palms and soles. While human body is a wonder of biological

complexity, things are not always perfect

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“Werewolf Syn.” Stephan: Lion Faced. Many of the most famous sideshow performers, like “Jo-Jo the Dog-Faced Man,” have had hypertrichosis

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“Werewolf Syn.” F A Jesus Manuel, from Mexico, has

cong. hypertrichosis

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“Werewolf Syn.”

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Foetus-in-foetu: 1 twin can develop inside the other. Babies born may look pregnant. A case of parasitic twin inside a 7y boy in Kazakhstan: something moving inside him. The surgeon recognized teeth, hair and a partially formed head in excised mass

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Electromagnetic field sensitivity: they develop rashes, HA and swollen eyelids. It is alleged that EMFs even cause Ca, lupus, Alzheimer and a long list of serious d.; they may have to live off the grid or otherwise drastically alter their lives to stay clear of modern technology

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Stone Man Syn. (Fibrodysplasia Ossificans Progressiva: FOP)

• Extremely rare. Mutation in repair mechanism. Injured muscles, tendons, ligaments are ossified. In a decade 1 can be fully immobile

• ACVR1 gene in tissues regulates G&D of them. But, FOP can allow ossification to go unchecked

• 1 in 2million. No Rx• Trauma is a cause, so trying to remove bone just

results in more bone

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Forgetlessness: may sound a superhero, it’s not. Cant forget anything can be extremely disturbing. Rare. Capable of remembering unimp. details like the weather every day for the past decade. Several cases

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CIPA (cong. insensitivity to pain with anhidrosis)

• G. Gingras is an energetic 9y girl just like every other child.

But she has no ability to feel pain, cold/heat. Is it an amazing

gift? It’s devastating! Pain is crucial, defensive• At 5mo she was biting her fingers until they bled. Later on,

she lost an eye and severely injured the other

• Various measures have been taken to prevent these. The

desperate parents are doing their best. 100 cases• Documentary: “A Life Without Pain” by M Gilbert on her

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CIPA: Next time you stub your toe, be thankful that you are able to feel the pain. In CIPA (congenital insensitivity to pain with anhidrosis) 1 does not feel pain, hot/cold. No sweats!, meaning that he can easily overheat without even being aware of heat. He often injures himself without even knowing it, especially as it is present from birth and small children will have no idea that they are harming themselves. Even just rubbing at eyes or chewing on gums can lead to serious infx. and scarring. As with progeria, CIPA pt. is unlikely to survive beyond 25, mainly due to complications c/by overheating

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It sounds great, right? Never a pain! But the truth is, that it is probably 1 of the most dangerous things for a human. Often children of this d acquire terribly debilitating injuries as a result of scratching, biting off their tongue, or walking around on broken bones

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Perpetual Shuteye:

• In what has been baffling Drs. globally, Natalie Adler of Australia has a problem with her eyelids

• Every now and then they will close tightly and not reopen for 3d

• Drs believe it may be a type of conversion d, that happens when a person internalizes various psychological issues that manifest physically

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Perpetual Hiccups: Although normally you would just grab a drink of water and wait it out, for 2y this hasn’t helped Christopher Sands in the slightest. Having tried numerous Rx, Drs. around the world are stumped: still haven’t been able to find a cause in her case

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Fatal familial insomnia: can kill. ~50y. Leads to delusions, panic, wt loss, paranoia, hallucin. and dementia. Sleeping pills hastens death. 100 cases. An Italian Dr died 1765

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Kleine-Levin Syn.: A strange and little understood d.: sleeping for weeks on end. Most afflicted children will see it gradually disappears by the time they reach their twenties

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Trichotillomania: A d. that leads to people compulsively pulling out their hair, the peak of onset is 9-13y and in extreme cases the hair is actually ingested as well (trichbezoar)

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Exploding Head Syn.: Not explode!. Often due to stress, s/he will be startled out of sleep in mid-night on hearing a loud bang. Drs. can’t see any negative effects of this. But s/he has an extreme aversion to falling asleep. Typically subside after several days

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Alien Hand Syn.

• Rare. “Right hand doesn’t know what the L is doing” is literally true for some people. But here, a rogue hand acts independently, grasping/moving against individual wishes

• Sometimes, a rare SE to TBI or surgical severing of the corpus callosum is blamed

• No cure, though it can be managed by making sure the hand is actively engaged in activity

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You never know what 1 misbehaving hand might do. Usually the L hand. If mild, your hand might grab things, tear clothing or undo buttons. Naughtier hands will choke you, or stuff food in mouth. 40-50 cases. In what cult movie does a character suffer from this syndrome?

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What is the Dx?

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Fish Odor Syn. (trimethylaminuria): body’s inability to break down it. No cure. Dietary counselling

• Genetic d. (mutations in the FMO3); often present from birth• Offensive body odor of rotting fish (TMA in urine, sweat, breath)• Excess of proteins, or an increase in TMA making bacteria in gut

may make FOS worse. Liver d., CKD, poor hygiene, gingivitis, and blood-borne halitosis are DD. Tests at specialized lab.

• FOS have been seen temporarily in a small number of preemies and in healthy women at the start of menstruation, usually in individuals that are heterozygous for FMO3

• Rx: food restrictions, use of acid lotions and soaps to remove, activated charcoal and Cu chlorophyllin, certain antibiotics, laxatives, and riboflavin supplements

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Cotard’s Delusion, “Walking Corpse Syn.”

Rare. First in 1880: s/he sincerely believes s/he is missing body parts or is actually dead; does not eat/bathe, often spends time in cemeteries

• Brain dysfunction in areas for recognizing and associating emotions with faces, including their own causing a complete emotional detachment

• It removes any sense of personal identity when looking at their bodies. Antidepressants, -psychotics can help, though ECT works better in some cases

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Cotard’s Delusion, “Walking Corpse Syn”

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Cotard's syn…

• S/he isn't dissuaded by ability to walk and talk and move their "dead" limbs: unshakeable belief, needs no proof

• Regardless of normal PE, s/he insists his/her belief. They have extreme depression

• Speech, dressing, walking, behaviour are not affected. Cognition ok. They can drive! Auditory hallucinations are sometimes present, as are other signs of schizophrenia

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Lost all of their vital organs. Often from brain injury. Can very easily lead to unintentional suicides

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Foreign accent syn.

• People surviving stroke/brain injury, severe migraine, may rarely begin speaking with a strong accent; pronouncing words that sound like French, or other foreign tongues

• From damage to speech centers and muscle coordn. They shift their tongue position and speech patterns

• Extremely rare. One of the most recent cases was that of Sarah Coldwill in the Uk. After suffering from an extreme migraine she woke up in the hospital hours later speaking with what sounded like a Chinese accent although she had never once in her life been to China

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aka irregular repetitive speech syn, the sufferer has an accent that sounds “foreign.” 60 cases recorded (1941-2009), not a foreign tongue — just an altered accent for native language

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Progeria: (Hutchinson-Gilford P. syn)

While we search for secrets of longevity, the answer may be found in 1 rare but heartbreaking d. that results in premature aging and death

• They look perfect in 1st y. But, by 2, most show aging• Toddlers begin to look exactly elderly: thinning hair and

wrinkled faces. Also begin to suffer from age-related d: CAD, loss of fat, age spots, achy joints; and stroke

• May live 21, but average 13. Most die from HD• A genetic defect in a protein (Lamin A: for the structural

integrity of a cell's nucleus). First described in 1886

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1/ 4 million babies. SS: stiff joints, loss of hair and body fat, fragile hips, strokes and FTT. die of HD or strokes

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A progeriac: SS of old age start in infancy. He has a characteristic look of a large head, beaked nose and narrow face. Sadly, he rarely lives past early 20s

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Wrinkles, baldness, missing teeth…stick around long enough and you’re sure to have your fill. While old age happens eventually, to children with Progeria all those manifest <2y. Unfortunately, although mentally they are still their age, many of these children develop old age illnesses like CV disease and arthritis. Rarely live >12y

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Beandri Booysen, a young girl with progeria, South Africa

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Epidermodysplasia Verruciformis (Human Tree)

• An Indonesian “tree man” with warts all over• Dede Koswara had 6kg warts removed; but within 1y

almost all of them had grown back. He needs 2/y surgeries to remove. He appears to be half-man, half-tree

• This hereditary skin d. is c/by HPV; forms warty growths out of control. Many cultures have tales of sentient tree, and if you saw someone with EV you might well believe it. 80% of us have HPV inf., but do not display any SS

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Methemoglobinemia (Blue People of Kentucky)

• While royalty were once thought to have blue blood running through their veins, medical science made clear that they’ve got the same runny red stuff as the rest of us. However, if you have the genetic condition known as methemoglobinemia then your blood will be brown, due to an enzyme deficiency

• Along with the risk of fatigue, exercise intol. and other symptoms, it can also lead – among Caucasians sufferers, at least – to one’s skin being blue. The Fugate family of Kentucky famously had a high incidence of this genetic condition, leading them to be known as the Blue Men of Kentucky

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As a result of methemoglobinemia, which causes decreased blood O2, some people develop a very deep bluish tint. The cause of this hereditary d. was recently discovered, however, with Rx, skin reverting back to normal

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• Double-Muscle Mutation (Superhuman Strength)• The substance myostatin is produced by our bodies to

inhibit the growth of muscles. When the secretion of this substance is itself inhibited or the body fails to respond to it, muscles grow far larger than might otherwise be expected. Recently, two children were found to have been born with such superhuman strength. One, a German boy, had a genetic mutation that interfered with his production of myostatin, while Liam Hoekstra, an American boy, had a defect that stopped his muscles responding to it in the normal way. It’s not surprising that the world’s strongest toddler has got quite a lot of attention from documentary crews. Both these children are far stronger than their peers – real-life supermen in the making.

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Lobster-Claw Syn. (Ectrodactyly)

• The opposable thumb may be what has allowed humans to succeed in the making and using of tools. Indeed, some people get along just fine with only a thumb and one finger. Ectodactyly describes the condition where some of the fingers of the hands or feet are missing or fused, leaving the appendage looking similar to a lobster’s claw

• Caused by a variety of genetic factors, ectrodactyly may look strange but often has very little effect on the life of those with the condition. For instance, the guitarist for the French black metal band Noctural Depression has the condition, as did Mikhail Tal, a skilled pianist and chess world champion!

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Immune sys. can be funny, with things as flowers, dust and certain foods. Some people even treat semen as serious. They can have blisters, swelling, hives, even SoB within 30min of contact. Men can even develop an allergy to their own semen, with flu-like SS lasting for 1w. But it’s not all bad news. Women with this may build up a tolerance provided they spend some quality time in bed together several times a week!

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Periodic Paralysis

• If salt consumption, resting after exercise and even sudden noises trigger extreme weakness in yourmuscles or near-total (but temporary) paralysis, a genetic condition called periodic paralysis might be to blame. Fortunately, only about 1 in 100,000 people know the feeling.

• It's caused by faulty ion channels in the walls of nerve cells. Potassium isn't able to properly pass through the channels that would allow it to cross through the cell wall when the muscle cell gets the "Go!" message from the brain. The muscles can't contract, and the body feels weak. (There are different types of periodic paralysis and, depending on which type a person has, potassium levels may be too high or too low in the cell.)

• When an attack is about to occur, a person with this condition feels weakness or heaviness in the legs. Sometimes, small, random muscles are affected; other times, his or her arms and legs become immobilized. The incident may last for a few hours, or as long as a few days. By quickly beginning to exercise, a full attack may be prevented, but there is no cure. Dietary restrictions and avoiding excessive exercise or fasting are common treatments.

• Though muscles will operate at full strength between attacks, years of periodic paralysis can permanently diminish muscle strength.

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Elephantiasis• Mosquitoes have a long tradition of infecting humans with horrible diseases -- old classics like

malaria and encephalitis, as well as relative newcomers, like West Nile virus. Another increasingly common and crippling gift from the mosquito to mankind is lymphatic filariasis, more commonly known aselephantiasis.

• Though not common in the United States, it's far from unknown around the tropical and sub-tropical world: About 120 million people have been infected by the parasite that causes elephantiasis [source: World Health Organization]. As its name suggests, elephantiasis infection can result in the painful enlargement of a limb, the genitals or the breasts.

• When mosquitoes bite an infected person, they pick up the tiny parasitic worm responsible for infection and pass it along to other humans over the next one to three weeks. These worms make the lymphatic systemtheir home, lodging themselves among the lymph nodes and vessels. Over the next five years or so (during which time no outward symptoms may develop), these filarial worms multiply until millions of them infect the body. The real damage caused, regardless of whether or not there is external enlargement of your body parts, is to the kidneys and lymphatic system.

• Swollen body parts can be treated largely through careful cleaning -- it reduces infection that has gone unchecked by the compromised lymphatic system. Anti-parasitic drugs can eliminate the adult worms responsible for the ongoing infection.

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• While persistent sexual arousal syndrome sounds like a schoolboy's fantasy, this bizarre medical condition is more of a nightmare to the women who have it.

• These spontaneous, unwelcome bouts of female sexual arousal -- with genitals that experience seemingly endless sensations of tingling, pulsing and throbbing -- is only at times lessened by orgasm, and orgasms are just as likely to make the ongoing sensation worse.

• The sensation can last for hours, and begin again just moments after seemingly having gone away. Women with this condition may have orgasms as often as every 30 seconds, and these cycles may last for hours on end. The constant heightened stimulation of the clitoris becomes painful.

• PSAS and its symptoms exist independent of sexual interest or desire. It's not nymphomania, an excessive desire for sex. Researchers aren't sure what causes it or how to make it stop. The women with the disorder describe it as torturous, and must spend their nights unable to sleep and their days avoiding contact with anything -- a slightly vibrating car seat, for instance -- that might trigger the symptoms. Masturbation offers no lasting relief. Since constantly trying to relieve the sensation negates any type of normal day-to-day life, most women with PSAS wait it out as long as they can before trying to relieve the sensation, and many also try to avoid sexual or affectionate contact with others altogether.

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Blaschkos Lines: Humans actually do have stripes, well not really, but certain skin conditions will expose a series of lines on the skin that otherwise are invisible. The most remarkable thing about them though, is that in every pt. they always follow nearly the same pattern

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Craniopagus parasiticus: extremely rare: conjoined/Siamese twins attached at head. More rarely: 1 head fails to develop much of a body (1 with 2 heads). 2 heads may express different emotions at one time. 10 cases recorded . Bing: More about an Egyptian girl who has this.

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Egyptian conjoined T: Ahmed and Mohamed Ibrahim on 6.3.02, in a Cairo h. Surgery to separate the boys could be delayed or canceled unless $125,000 is raised

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Parasitic meningitis: If you swim in certain warm, freshwater rivers/lakes, Naegleria fowleri may sneak up your nose and cause 1y amebic ME (PAM), a deadly d. IP: 1w. Death 1-2w later. No PAM from drinking conta. water. Partially chlorinated water may also cause

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Vampire Syn.:

• Porphyria is an incurable and inherited d. that causes not only blisters but also cramps and paralysis whenever the afflicted individual is exposed to sunlight

• This shouldn’t be confused with polymorphic light eruption, however. The latter is actually a fairly common d. afflicting 15% N Americans and only leads to mild rashes upon initial springtime exposure to sunlight

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Pica: Characterized by eating substances with no nutritional value the reasons behind it may vary. Although sometimes it can be the result of cultural traditions it is often found in children with developmental disabilities or iron deficiency

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DystoniaA rare disorder, individuals suffer abrupt twisting motions whenever their muscles sustain any contraction. The most well-publicised case in recent history involved that of Deseree Jennings, the 25 year old girl who was aspiring to be a professional football cheerleader when she acquired the disease from a flu shot. Although she can’t walk forwards, stand in one spot, or talk normally while doing either of the two, she can walk backwards and even run during which her convulsions and strained speech temporarily revert to normal.

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Although many people are allergic to food on some level, imagine being allergic to food period. Joshua, a young boy who made headlines, suffers from eosinophilic esophagitis so extreme that even the scent of food could kill him. Until more is known about it people in Joshua’s shoes have to be fed via NGT