Saturday, March 24, 2007

Finlay-Marks Syndrome (SEN)

SEN, or Finlay-Marks syndrome is also called Scalp, Ear and Nipple syndrome. Characterized by scalp, ear and nipple abnormalities, Finlay-Marks Syndrome is a rare, autosomal dominant condition, whose gene locus is still unknown. Those afflicted may have bumps on the scalp, underdeveloped and hypopigmented nipples, or even lack of nipples, and cupped or folded ears. Brittle fingernails and widely spaced teeth are other manifestations of this syndrome. Fortunately fewer than 200,000 people in the US are affected.

There is scant information about this disease online for free.

Read more here:

If you have SEN, (or any other rare or orphan disease) please contact the Making Contact website. This site allows people with like conditions to make email contact.

Friday, March 16, 2007

Autistic Savants

Who hasn't seen "Rain Man" with Dustin Hoffman playing an autistic savant? The
Autistic savant is afflicted by a fascinating psychological phenomena. Autistic savants are people with autism who posses extraordinary skills, beyond that of most non-affected individuals. Historically such people were termed "idiot savants", French for a very knowledgeable idiot. Savant Syndrome is sometimes shortened to "savantism" and individuals with Savant Syndrome abbreviated to savants.

Some of the exceptional skills autistic savants posses are superhuman memories, extraordinary musical skills, mathematical genious, and artistic talents.

"True photographic memory of the kind exhibited by Stephen Wiltshire is truly a rare but amazing gift. Mr. Wiltshire is an autistic savant and those that know him call him "the living camera". When he was 11 years old he drew a perfect representation of the aerial view of London after a single helicopter ride, down to the correct number of windows on the major buildings of the city."
You'll find Mr. Wiltshire drawing Rome from memory after a short helicopter ride over the Eternal City.

Read Stephen Wiltshire's bio here:

Daniel Tammet is another autistic savant. "Daniel Tammet is an autistic savant. He can perform mind-boggling mathematical calculations at breakneck speeds. But unlike other savants, who can perform similar feats, Tammet can describe how he does it. He speaks seven languages and is even devising his own language. Now scientists are asking whether his exceptional abilities are the key to unlock the secrets of autism." Interview by Richard Johnson, Guardian Unlimited,,1409903,00.html

Image from

Monday, March 12, 2007

Munchausen Syndrome

Munchausen Syndrome is psychiatric disorder causing the sufferer to harm her/himself, or to "invent" an illness in order to garner attention. Munchausen by proxy is a variation of the disorder, when a person inflicts harm to another. Typically this is a mother who may cause her child or some other person who may be dependent on her, to exhibit symptoms - again to draw attention to herself.

Many Munchausen patients are very familiar with medical terms and will encourage their doctors to order tests or hospitalization. These patients are adept at faking symptoms. Detail oriented caregivers will notice that symptoms appear only after the patient is left alone! For example, a fever may appear after the patient has been alone; giving the patient time to falsely elevate their body temperature.

The exact cause is not completely clear. Some believe it is psychological in origin, perhaps due to child neglect and/or abuse.

Read more from the Cleveland Clinic

Saturday, March 10, 2007

Blue Skin Syndrome (Methemoblobinemia)

Illustration from Flickr

Until the 1960's or so, a family of French ancestry known as the Blue Fugates, lived in Kentucky. They were so called because of their blue tinted skin. The family seemed to live normally, with life spans of 80 or more years. Because it had been passed on for so many generations, it was assumed to be hereditary. Local folks thought the family suffered from heart or lung disease. In fact, these people did have trouble breathing and lightheadedness, but these symptoms were the result of their syndrome, and not the cause.

We now know it was methemoglobinemia. Methemoglobinemia is primarily genetic, but one can acquire this syndrome from the intake of excessive nitrites (used to preserve meats), contaminated well water, silver nitrate (Used to treat burns and infections), ingestion of mothballs and even from eating too many carrots or spinach! (I wonder how Popeye avoided this!)

Simply put, hemoglobin that is present in our red blood cells, carries oxygen to all parts of our body. In methemoglobinemia, the hemoglobin is unable to carry sufficient oxygen to the tissues of the body, and a bluish color of the skin occurs.

Sometimes the blue skin color appears to be brown, especially around the lips and mucus membranes. This is known as "chocolate cyanosis", and is thought to be due to the brownish color of the blood.

Read more here:

Sunday, March 04, 2007

Foreign Accent Syndrome

This is a very rare, curious syndrome that strikes people who have had a stroke or other brain injury- multiple sclerosis has also been thought to trigger FAS. In some patients, after a stroke, they may suddenly begin speaking their native language with a foreign accent! Many of these patients claim never to have heard the language from which their accent is derived!

The condition often clears up on its own, but many doctors believe it is more psychiatric in nature than an organically caused syndrome. Recently researchers at Oxford University have found small areas of brain damage, affecting the pre-motor and motor areas in patients that suffer from FAS. These minute brain injuries may be causing subtle changes to how voice is expressed-causing altered pitch or syllables with different pronunciations.

For additional reading on Foreign Accent Syndrome:


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