On Thursday’s episode of Grey’s Anatomy, a girl with no cheek bones needed a surgery so that she could start playing sports without the fear of getting her face harmed. The girl had a syndrome called Treacher-Collins syndrome, explained below.

Danger: Medium

What is it?

Treacher-Collins Syndrome (TCS for short), also called mandibulofacial dysostosis, is a rare genetic disease causing deformities in the facial bones of our skull, such as absent cheek bones.

Who gets it?

TCS is rare. It happens in 1 out of 40-70,000 births.

It is genetic, and in 40% of cases runs in the family, meaning that the child inherits the defective gene from one of the parents in 40% of cases. The other 60% don’t depend on the parent, and the defective gene appears for the first time in the child.

What causes it?

When a fetus develops, its organs have many phases along the way to becoming adult organs. An example for that are the pharyngeal arches, grooves, and pouches. These are all structures that exist only in the fetus, while it’s developing in the womb. They develop slowly during pregnancy into adult organs.

For example – there are 6 pharyngeal arches, each developing into different organs or organ parts in our body.

A developing fetus. Three of the pharyngeal arches are labeled below (mandibular, hyoid, third).

In TCS, there’s a problem with growth of organs that derive from the 1st and 2nd arches (and grooves, and pouches) which are responsible for growth of structures in our face.

How does it feel?

Most people with TCS have underdeveloped facial bones, especially cheek bones, and a small jaw and chin (this is called micrognathia).

Sometimes an opening in the roof of the mouth can occur, called a cleft palate.

In severe cases, it may impair the baby’s airways and be life threatening.

In terms of appearance, people with TCS have eyes that slant downward, sparse eyelashes, and a coloboma, which is a notch in the lower eyelids. There can be other eye abnormalities, causing loss of vision.

The ears can also be affected and be absent, small, or have an unusual shape. This can also lead to hearing problems.

Here’s an example – this video is from a girl with TCS -

How is it discovered?

The looks of a child with TCS help diagnose the disease. The set of features unique to the condition help the doctor come at the correct diagnosis. Also, genetic testing can be done to see if the child has the defective gene.

If the doctor is in doubt, an facial image using x-ray or a CT scan can be used to help with the diagnosis.

How is it treated?

Plastic surgery can be used to treat certain deformities in the face (on Grey’s Anatomy, a bone graft was used to give the girl cheek bones).

Other things are also done to aid other problems that come with the disease, such as hearing aids for hearing loss, or help with breathing if the disease involves the airways.

What happens after treatment?

Children with this syndrome usually grow to become normally functioning adults. It’s important to address any hearing problems, so that the child can perform normally in school.

If there is a history of TCS in the family, genetic counseling may prevent the birth of a child with the condition.

You can learn more about the condition by reading the Reflections on Treacher-Collins Syndrome blog, written by Amie.

Related posts:

1. As Seen on Grey’s Anatomy – Tethered Spinal Cord Syndrome
2. Superior Canal Dehiscence Syndrome – Hearing Sounds Inside Your Own Body (As Seen on Grey’s Anatomy)
3. Osteoporosis – How Your Bones Can Get Thinner With Age And What You Can Do To Avoid It

Michael Douglas told a US television audience on Tuesday night that he has been diagnosed with and is receiving treatment for stage 4 throat cancer. There is more than one type of organ in the throat which can have cancer, and Douglas didn’t go into details.

According to specialists, if the cancer started at the base of his tongue (as Douglas’ press representative described), he probably has a type of cancer called oropharyngeal cancer.

Danger level: High

What is it?

Oropharyngeal cancer is a disease in which malignant cells form in the oropharynx.

Who gets it?

The average age of being diagnosed with oropharyngeal cancer is 60, with men getting it twice as frequently as women. It’s more common in African-Americans men than in white men.

There are certain things that raise your risk of getting oropharyngeal cancer (called risk factors). Such risk factors include:

1. Smoking and chewing tobacco
2. Heavy alcohol use
3. A diet low in fruits and vegetables
4. Drinking a sort of a South American stimulant drink named maté.
5. Chewing an Asian type of stimulant called betel quid.
6. Being infected with human papillomavirus (HPV) – This is a sexually transmitted virus. Unsafe oral sex with multiple partners is a risk factor for getting infected with HPV.

Michael Douglas said in his interview this week that he used to be a drinker and a smoker.

Alcohol and smoking are major risk factors for oropharyngeal cancer. Photo by Darwin Bell

What causes it?

First of all – what is the oropharynx, in which this cancer develops?

The oropharynx is the middle part of the throat (the throat is also called pharynx), behind the mouth. This part includes the back 1/3 of our tongue, the soft palate, the side and back walls of the throat, and the tonsils.

As with other types of cancer, oropharyngeal cancer happens when cells in this area start to grow out of control, for reasons not clearly understood.

How does it feel?

People with oropharyngeal cancer may feel any of those:

1. A sore throat that doesn’t go away – Michael Douglas’ tumor was discovered due to this very complaint.
2. A lump in the back of the mouth, throat, or neck
3. A dull pain behind the breastbone
4. Cough
5. Trouble swallowing
6. Weight loss not caused by a diet
7. Ear pain
8. A voice change

How is it discovered?

Diagnosis is made by taking a sample of the area suspected to be cancerous and looking at it under a microscope. A CT scan or an MRI are also used, and can help to see if the cancer has spread.

During the diagnosis process, tests are done to find out if the cancer has spread from the oropharynx to other places in the body. This is part of the staging process, common in cancers. Staging tells which stage the tumor is at (there are 4 stages), and can help guide the right type of therapy and also tell about the chances of survival.

Stage 1: In this stage, the cancer is 2 centimeters or smaller and is still in the oropharynx.

Stage 2: It’s between 2-4 centimeters, and is still in the oropharynx

Stage 3: It’s larger than 4 centimeters and is still in the oropharynx, or it has spread to a nearby lymph node.

Stage 4: It has spread further.

(This is a summary of stages, and lacks many details)

Michael Douglas’ tumor is at stage 4.

How is it treated?

Depending on the stage, oropharyngeal cancer can be treated by surgery, radiation therapy, and other types of possible treatments which include chemotherapy, among other things.

What happens after treatment?

That depends on the stage and the location of the tumor. The survival after treatment is better in earlier stages.

The bottom line – How do I avoid it?

1. Stop smoking – This is the most important thing you can do.

2. Limit your alcohol consumption

3. Limit the number of your sex partners. Using a condom, unfortunately, can’t fully protect you from HPV during sex.

Here’s the part of the interview with Michael Douglas, as seen on the David Letterman show:

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On Thursday’s episode of Grey’s Anatomy (titled “Shiny Happy People”), a teenage patient called Hayley is thought to have schizophrenia after trying to claw her own eyes out. Not unlike a House episode we recently covered, the diagnosis turns out wrong and instead she is found to have a condition called superior canal dehiscence syndrome.

Photo by ABC

Danger level: Medium

What is it?

Superior canal dehiscence syndrome (SCDS) is a rare condition affecting the ear which causes the person having it to hear sounds inside their body, among other things. It was first described in 1998.

Who gets it?

Since the condition was first described only in 1998, not much is known in that area. A study conducted on cadavers (dead bodies) found ears matching the condition in about 0.5% of bodies checked.

It appears to affect women and men alike. The condition usually affects people around the age of 40, although it may start earlier or later.

What causes it?

Our ear, as we described here before, is divided into 3 parts: The outer ear, middle ear, and inner ear. Our inner ear is the innermost part, and it’s responsible for hearing and balance.

The inner ear.

Our inner ear is composed of 3 canals filled with fluid that sense our position in 3D, which helps us keep our balance. Just like a gyroscope that tells our brain the position of our head in real time. The superior canal is one of those canals.

Overlying the superior canal is one of our bones, called the temporal bone. In SCDS that bone is thinner than usual since it hasn’t developed properly.

Through a mechanism too complicated for this article, the symptoms of SCDS develop due to this bone defect.

How does it feel?

There are typical symptoms people with SCDS may experience:

1. Autophony – This means the person can hear their own speech or other noises inside their body (such as the heartbeat, eye movements, chewing, etc.) very loudly.
2. Dizziness/vertigo – Problems with balance, since, as mentioned above, our inner ear is responsible for keeping our balance. (You can learn about head spinning in our article published a while ago).
3. Tullio phenomenon – In this case, sound can cause the patient to lose balance. Sound can also cause rapid movement of the eyes, called a nystagmus.

These are the main symptoms, although there are others as well. This fascinating video shows a true story:

httpv://www.youtube.com/watch?v=f6vAkdGw8T4

How is it discovered?

One way is doing a CT scan of the temporal bone, which will show its thinning (or dehiscence).

There are other ways. Among them is the method shown in the Grey’s Anatomy episode, called a videonystagmography (VNG). In this method, hi-tech video goggles with infrared cameras are worn while doing things that can provoke rapid eye movements in the condition.

How is it treated?

The condition can be treated by a surgery, which repairs the gap in the temporal bone. Another surgical method is plugging the superior canal.

What happens after treatment?

The success rate of the operation is quite high. Most patients don’t have their old symptoms after the operation.

The bottom line – How do I avoid it?

There is no known way to prevent the condition.

If you happen to have SCDS, there’s a support group for you.

Related posts:

1. Meniere’s Disease – From Head Spinning To Hearing Loss
2. Treacher-Collins Syndrome – Being Born Without Cheek Bones (As Seen on Grey’s Anatomy)
3. As Seen on Grey’s Anatomy – Tethered Spinal Cord Syndrome

Summer’s going away, at least around these parts of the woods. Many of you may be going to the pool to enjoy what’s left of it. Read on to find out about otitis externa – an ear infection you can catch while swimming there.

Danger level: Medium

What is it?

Otitis externa is an inflammation of the outer part of the ear causing earache.

Who gets it?

In the US, otitis externa happens to 4 out of every 1000 people each year.

It’s most common in swimmers, divers, and others whose ears are exposed to water for a long period of time.

It can be seen in all ages, but is most common around 7-12 years.

What causes it?

Our ear has an inner and an outer part. The outer part is the one spanning from the ear you can see, inside until the eardrum. The inner part is the part which comes after the eardrum. When your outer ear gets inflamed, the condition is called otitis externa. When the inner part gets inflamed, it is called otitis media, which we will cover in a future article.

Our ear is built so that infections will not occur in it. To prevent infections from happening, it has a few things going for it:

1. Cerumen (earwax) – This is a substance which created an acid environment in our ear. This repels bacteria and prevents infection. It also repels water, and collects debris in the ear, moving it out of the ear.
2. The ear’s shape – Our ear canal has a downward direction. This helps us get rid of water accumulating in the ear.

In swimmer’s ear, bacteria overcome these defenses and cause an infection and inflammation in our ear. How can they do that?

1. Swimming a lot (or getting a lot of water in your ears for other reasons) thins out the earwax, making it less protective.
2. A breakage of the skin can happen – This can happen when using a cotton swab (Q-tip) to clean the ear. It is recommended that you don’t clean your ears using a cotton swab, as this can expose you to an infection. Believe it or not, our body gets rid of the excess earwax by itself, and you really don’t need to mess with it.

How does it feel?

Swimmer’s ear can cause pain. The pain may get worse by touching the earlobe or when chewing.

Other things which can be felt include itching, a feeling of fullness in the ear, a yellow discharge from the ear, redness in the ear canal or skin of the ear.

Otitis externa (swimmer’s ear). Photo by Dale Miller.

How is it discovered?

Usually, a physical exam in which the doctor will look at your ear canal with an otoscope to see that it’s red and swollen.

How is it treated?

Otitis externa is treated using eardrops which contain antibiotics (which fight the germs causing the infection) and sometimes also steroids (which lessen the inflammation in the ear).

What happens after treatment?

Most people improve within 48-72 hours of starting the antibiotics.

If not treated properly, two things can happen:

1. Chronic otitis externa – This is defined as an infection which lasts more than 4 weeks or happens more than 4 times a year.
2. Necrotizing otitis externa – This usually happens to diabetics and older people. In this case, the infection spreads to the bones around the ear, which can also damage nerves in the area and may lead to death.

The bottom line – How do I avoid it?

1. Keep your ears dry – Dry them after swimming or showering. You can do this by shaking your head to remove water from the ear canal, or using the corner of a towel.
2. Don’t use any foreign objects in your ear – And yes, this includes cotton swabs. Also fingernails may damage the ear canal, so don’t poke fingers inside to clean the ear.

This video, featuring Dr. John Hong of NBC, sums it all up:

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1. Labyrinthitis – An Ear Infection Causing Loss of Balance
2. 8 Home Remedies for Summer’s Problems
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Danger level: Medium

What is it?

Labyrinthitis is an inflammation inside your ear, which can cause loss of balance and problems hearing.

Who gets it?

Labyrinthitis can be caused by a virus or bacteria. Usually, when it’s caused by a virus, it appears at ages 30-60 and is more rare in children. If bacteria are the cause, it usually appears in children younger than 2 years.

What causes it?

As explained in the article about vertigo, there are 3 systems responsible for giving us balance: The eyes, the joints and muscles, and the ears.

Our ears have 3 parts: The outer ear – which is what you see hanging one the side of people’s heads until our eardrum; the middle ear – is the part behind our eardrum, responsible for transmitting the sound; and the inner ear, which is responsible both for processing sound and for our balance.

The labyrinth is the part in our inner ear responsible for sound processing and balance.

The labyrinth – this structure is in charge of our balance.

In labyrinthitis, the labyrinth gets swollen and inflamed. Usually it’s caused by a viral infection, but bacteria can cause it as well. Often it comes after an upper respiratory infection (such as a cold or flu).

For a more detailed explanation (including a nice animation) you can watch this video:

How does it feel?

There are some things which appear in labyrinthitis:

1. Vertigo – In vertigo, you feel like the world is spinning around you. The vertigo starts suddenly, without a warning. Usually people with vertigo prefer to not move, and keep their eyes closed. Otherwise, they might feel nauseated and want to vomit.
2. Hearing loss – That loss usually goes away after the inflammation has passed.
3. Tinnitus – Tinnitus is the sound of ringing in your ears. It can be annoying, but it, too, passes after the inflammation subsides.

These symptoms tend to go away after a few days or weeks.

How is it discovered?

Usually, labyrinthitis is diagnosed by hearing your story and by a physical exam. The exam can include hearing tests, and an eye test to see if you have an uncontrollable flickering of the eyes, called nystagmus, which is common during labyrinthitis.

If the doctor suspects another cause for your vertigo, they may perform an MRI or CT scan to rule them out.

How is it treated?

In most cases, no treatment is needed, as labyrinthitis goes away on its own. If bacteria caused it, you may need to take antibiotics, but if the cause is viral, antibiotics will not help (since they don’t treat viruses, only bacteria).

While recovering, your doctor may give you drugs to help with the nausea and vomiting.

What happens after treatment?

In a few days to a few weeks, the symptoms are usually completely gone. Hearing loss may take more time to heal, though. If the cause is a virus, the hearing loss tends to go away, but with bacteria, some level of hearing loss may stay for good.

If you have an infection your airways (such as a cold) or an ear infection, treating them on time might prevent labyrinthitis from developing.

Related posts:

1. Meniere’s Disease – From Head Spinning To Hearing Loss
2. Otitis Externa (Swimmer’s Ear) – Why You Should Never Use Q-Tips
3. Gas Gangrene – An Infection That Can Rapidly Kill Your Muscles (As Seen on House MD)

Head spinning is a common complaint in medicine. The main problem with head spinning is actually its definition: People often confuse it with dizziness. When someone comes to the doctor complaining “I feel dizzy”, it usually means one of two things: Either they feel their head is spinning, or they feel they are about to faint.

In this article we’ll cover the first option – head spinning, or in medicine “vertigo”. When you have vertigo you feel as if you are spinning or the world is spinning around you, when there is no actual movement.

Vertigo. You feel as if the world is spinning. Photo by Melle_Oh.

Why is vertigo caused?

3 systems are responsible for our body’s balance:

1. The eyes – For example, if you don’t see where you’re going, you will fall.
2. The somatosensory system – That’s a complicated name, but what it means is that our skin, joints and muscles are constantly sending information to our brain telling it where we are in space.
3. The ears – Our ears have two main parts: The one responsible for hearing, and the one responsible for balance.

Vertigo is usually caused by a problem in the part of our ear responsible for balance (that part is called the vestibular system).

Our ear from the inside (the inner ear). This part is responsible for our balance, and for vertigo.

What are the causes?

A bunch of diseases can cause vertigo, but it can also occur to normal people:

1. Seasickness – We mentioned above that 3 systems in our body tell it where we are in space. Sometimes these systems send different messages to the brain, getting it “confused” – such as when we’re at sea. When we’re at sea, our inner ear will feel the movement from the waves. At the same time, our eyes will tell the brain we’re not moving (since we’re just sitting in our cabin). This confusion leads to seasickness (also called motion sickness).This mismatch between our systems also explains why we have carsickness, fear of heights, and the vertigo some people feel when watching chase scenes in a movie.
2. Unusual neck or head positions – Such as when we paint a ceiling – our necks would be extremely extended, a position to which we are not used.
3. Following a spin – Ever tried to spin on a spinning chair? Most likely after that spin you felt as if the world was spinning around you.

As mentioned above, there are also diseases which cause vertigo:

1. Problems in our inner ear -
   a. Meniere’s Disease – This is a condition in which there is a problem with the fluid inside our inner ear. This causes vertigo, ear ringing and hearing loss.
   b. Benign paroxysmal positional vertigo (BPPV) – In this condition brief vertigo spells that come and go are caused by changes in the position of the head.
   c. Labyrinthitis – This is caused when there is inflammation inside our inner ear. It’s mostly caused by a virus.
2. Migraine headaches – About 25% of people with migraines have some sort of “dizziness”, which can sometimes manifest as vertigo.
3. Stroke – Stroke happens when the blood supply to the brain is disturbed. When the blood supply to the area of the inner ear and our brainstem is disturbed, vertigo can occur. This is a life-threatening situation.

There are other diseases which can cause vertigo, but these are the most common ones.

In the future we will cover each disease mentioned here, so you can return to this page or bookmark it to learn about each of them.

Ever experienced vertigo yourself? Let us know in the comments.

Related posts:

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2. Labyrinthitis – An Ear Infection Causing Loss of Balance
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Danger Level: Medium

What is it?

Meniere’s Disease is an ear problem which causes hearing loss, ear ringing and dizziness.

Who gets it?

Usually people between the ages of 40-60, but it can come at any age. There are some factors which increase the risk of having the disease:

1. A family member with the disease
2. Some allergies
3. Injury to the head or to the ear
4. Syphilis (rarely)

This disease happens to 50-200 out of 100,000 people, and most of the time involves only one ear.

What causes it?

Our ear is divided into 3 parts: The outer ear, middle ear, and inner ear. Meniere’s disease is a disease of the inner ear.

Our inner ear is responsible for two things: Hearing (naturally), and also balance. There is a fluid inside the inner ear, called endolymph, which helps it work properly. In Meniere’s disease, there is too much endolymph, which causes problems with hearing and balance.

The inner ear is what lies behind your eardrum.

How does it feel?

The disease comes in attacks, which last for up to 24 hours. The main feature of these attacks is a dizziness called vertigo. The main difference between the dizziness we all know (feeling faintish and queasy) and vertigo is that in vertigo it feels as if the world is turning. This has to do with the problems the ear is having keeping our balance. With that comes nausea and vomiting, and problems keeping straight.

The second feature is something called tinnitus, or ringing in your ears.

The third and last feature is hearing loss. First it comes in attacks, but with time it worsens.

How is it discovered?

Meniere’s disease is what’s called in medicine a “diagnosis of exclusion”. This means that once other diseases that are easier to diagnose have been ruled out, we can come to the conclusion that a patient has meniere’s. In order to rule out these diseases an MRI picture can be taken, and also a hearing check called an audiogram will be performed.

How is it treated?

The treatment for meniere’s can be divided in two:

1. Symptomatic relief: These are medications that help ease the attacks. They include drugs against nausea, diuretics (these are drugs that cause the body to urinate more fluid. As mentioned above, there is excess fluid in the inner ear). For this reason, sometimes a low-salt diet is tried, which should cause less fluid to accumulate in the body, including the ear.
2. Direct measures: If all of this doesn’t work, a drug named gentamicin is injected to the ear, which destroys the organ inside the ear which is responsible for balance. Another option is a surgery, that does the same thing mechanically. Both are permanent and irreversible, and therefore are a last resort.

What happens after treatment?

The disease varies between people: some will have severe attacks, while others may have a milder disease. In some people the disease may disappear altogether, while in others it can cause a permanent hearing loss.

Here’s a woman that was actually treated successfully:

In most cases, the reason for the disease is unknown. But, as written above, sometimes the disease is caused by injuries to the head. Therefore, it’s a good idea to wear a helmet when bicycling, riding a motorcycle, playing baseball or other activities which can end in an injury to the head.

Also, since sometimes allergies can be related to Meniere’s, treating your allergies might help.

For a personal perspective on Meniere’s disease, visit the My life and Meniere’s disease blog.

Related posts:

1. Head Spinning (Vertigo) – What Causes It?
2. Labyrinthitis – An Ear Infection Causing Loss of Balance
3. Superior Canal Dehiscence Syndrome – Hearing Sounds Inside Your Own Body (As Seen on Grey’s Anatomy)