This document provides information on various rare medical conditions, including: - Prosopagnosia (face blindness) which affects recognition of known faces. - Klippel-Trenaunay syndrome, characterized by a port-wine stain, varicose veins, and an enlarged limb. - Proteus syndrome, an extremely rare condition causing overgrowth of tissues. - Foreign accent syndrome, where brain damage causes speaking with a foreign accent. - Progeria, a rare premature aging condition where children develop aging-related diseases at a young age.

1. W e l c o m e A l l

8. Bizarre
Medical
Conditions

9. 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

12. William Bradley "Brad" Pitt
American actor

13. Crown Princess of Sweden: Victoria
Ingrid Alice Désirée

14. Dame Jane M Goodall

15. 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

18. 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

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

23. KTS: Billy Corgan: rocker
KTS: John Patterson: rocker

24. KTS: Casey Martin: American golfer

25. 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

26. 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

27. 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

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

30. • 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

32. 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

34. 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”

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

36. 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 …

37. 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

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

40. 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

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

42. Wim Hof, 49, The Man Who Never
Gets Cold

43. 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

46. “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

47. “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

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

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

50. “Werewolf Syn.”

51. 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

52. 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

53. 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

56. 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

57. 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

58. 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

59. 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

61. 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

64. 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

65. 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

66. 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

67. 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)

70. 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

71. 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

73. 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?

75. What is the Dx?

76. 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

77. 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

78. Cotard’s Delusion, “Walking Corpse Syn”

79. 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

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

81. 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

82. 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

84. 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

85. 1/ 4 million babies. SS: stiff joints, loss of hair and body fat,
fragile hips, strokes and FTT. die of HD or strokes

86. 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

87. 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

88. Beandri Booysen, a young girl with progeria, South Africa

90. 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

92. 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

94. 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

95. • 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.

98. 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!

100. 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!

101. 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.

102. 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.

103. • 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

104. 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

105. 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

106. Egyptian conjoined T: Ahmed and Mohamed Ibrahim on
6.3.02, in a Cairo h. Surgery to separate the boys could be

108. 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

109. 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

112. 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

113. Dystonia
A 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

114. 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