When Finance Minister Jim Flaherty disclosed to the Globe and Mail this week that his recent change in appearance is due to a rare skin condition called bullous pemphigoid, many wondered what exactly that meant.
Bullous pemphigoid is an autoimmune disease which results in fluid-filled blisters near the areas of skin that flex often, like the upper thighs and abdomen, according to MayoClinic.com. It is very rare, seen only in approximately 1 in 40,000 people, and most commonly occurs in people over the age of 60 (Flaherty is 63).
The disease begins when certain inflammatory antibodies in the immune system bind to the basement membrane, the layer of skin which lies just under the epidermis, leading to painful blisters. The cause of the disease remains unclear, though some studies have found a correlation between medications like diuretics and neuroleptics and the appearance of the blisters.
The prognosis for the disease is good for those who are in general good health, with most patients getting the condition under control within months, and a complete disappearance of symptoms within one to one-and-half years (though recurrence is always a possibility). Generally treated with anti-inflammatory, corticosteroid or immunosuppressant drugs, the latter can cause problems for those who are suffering from other illnesses.
As the blisters are the only physical evidence of the condition, the medications might explain Flaherty's recent appearance, as prolonged usage of steroids is known to cause bloating and weight gain, among other side effects — and hopefully means he's getting the treatment he needs to get well soon.
This disease, which <a href="http://rarediseases.info.nih.gov/GARD/Condition/6506/Gigantism.aspx" target="_hplink">according to the NIH</a> is most often caused by a begnin tumor in the pituitary gland, results in an excess of GH, or growth hormone. This causes sufferers to grow abnormally large, not just in terms of height, weight but also organ size. It results in complications like delayed puberty, increased sweating, and secretion of breast milk.
Characterized as an eating disorder, <a href="http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pica" target="_hplink">Pica</a> causes people to eat what the <a href="http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Pica" target="_hplink">National Organization for Rare Disorders describes as</a> "non-nutritive" things. That umbrella term can include (but isn't limited to) dirt, clay, paper, and paint. Interestingly, it's not unusual for young kids to experience transient pica as a kind of phase, and <a href="http://www.americanpregnancy.org/pregnancyhealth/unusualcravingspica.html" target="_hplink">pregnant women</a> are also known to develop temporary pica cravings. The cause? Unknown. But in order to be diagnosed with full-blown Pica, a person's symptoms must last for more than a month.
Maple Syrup Urine Disease
MSUD, which is passed down through families, is a life-threatening metabolic disorder passed down through families that stems from the body's inability to process certain amino acids, leading to a build-up of them in the body. <a href="http://rarediseases.info.nih.gov/GARD/Condition/3228/Maple_syrup_urine_disease.aspx" target="_hplink">According to the NIH,</a> symptoms usually surface in early infancy and can include vomiting, lack of energy, seizures, and developmental delays. MSUD takes its name from another symptom -- the urine in affected infants smells like caramel or maple syrup.
Situs Inversus is a congential condition in which internal organs of stomach and chest lie in mirror image of their normal body position -- something many sufferers aren't aware of until they seek medical help for an unrelated problem. <a href="http://en.wikipedia.org/wiki/Situs_inversus" target="_hplink">People with Situs Inversus</a> typically wear some form of identification to help doctors in the case of a medical emergency.
Trigger thumb, or trigger finger as it's sometimes known, causes a person's finger or thumb to get caught in a locked position. <a href="http://www.mayoclinic.com/health/trigger-finger/DS00155" target="_hplink">According to the Mayo Clinic,</a> it can then stay stuck or straighten with a painful "snap." The cause? It depends. Trigger Thumb is the result of a narrowing of the sheath around the tendon in the problem figure, but that can be caused by a lot of things, including any activity that requires people to grip things frequently. Trigger Thumb is also more frequent in women.
Once the disease of sailors and pirates, <a href="http://www.ncbi.nlm.nih.gov/pubmed/16911372 " target="_hplink">scurvy does still exist in the United States,</a> though predominantly in older, malnourished adults. It usually stems from a Vitamin C deficiency, which can result in gum disease, skin leisons, and swelling of the joints.
This progressive genetic disorder causes sufferers to store excess copper in tissues, including the brain and liver. <a href="http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Wilson's Disease" target="_hplink">Though the Mayo Clinic says</a> that the body depends on copper in order to use iron and sugar, too much of it in the body can have real consequences. Which is why sufferers of Wilson's Disease are prone to liver failure.
Foreign Accent Syndrome
<a href="http://www.utdallas.edu/research/FAS/about/" target="_hplink">According to researchers at the University of Texas at Dallas,</a> this speech disorder causes people to experience a sudden shift in their accents and though it is known to be caused by things like brain trauma, conversion disorder, or multiple sclerosis, an exact reason behind the syndrome is unknown. Sufferers of FAS dramatically shift their speech in terms of timing and intonation, which often causes them to sound foreign, but they remain totally comprehensible. <a href="http://www.utdallas.edu/research/FAS/about/" target="_hplink">Documented accent shifts</a> include from American English to British and from British to French.
Stiff Person Syndrome
People who suffer from this acquired neurological disorder experience repeated, often painful, muscle spasms as well as muscular rigidity and stiffness. <a href="http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Stiff Person Syndrome" target="_hplink">According to the National Organization of Rare Diseases,</a> spasms can occur at random or they can be caused by something as seemingly benign as light physical contact or an unexpected noise. The cause of Stiff Person Syndrome isn't yet known, but symptoms can be stabilized with medication. Left untreated, however, a person can lose the ability to walk.
<a href="http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Carcinoid syndrome" target="_hplink">According to the National Organization of Rare Diseases,</a> about 10 percent of people with carcinoid tumors -- which <a href=" http://www.mayoclinic.com/health/carcinoid-tumors/DS00834" target="_hplink">the Mayo Clinic says</a> are slow growing tumors that produce excess serotonin and usually appear in the gastrointestinal tract or lungs -- get this syndrome. It occurs only in patients whose tumors have metastasized to the liver. The symptoms? Wheezing, hotness, and extreme facial blushing.
Cyclic Vomiting Syndrome
Children and adults afflicted with <a href="http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cyclic Vomiting Syndrome" target="_hplink">CVS</a> experience recurrent episodes of severe vomiting, which can last for days, followed by sudden periods of no vomiting. While kids are likely to experience more frequent attacks, adults's often last longer. To date, the cause of CVS is unknown.
Peeling Skin Syndrome
This obscure, <a href="http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Peeling Skin Syndrome" target="_hplink">genetic skin disorder</a> does exactly what its name implies: causes sufferers to experience constant shedding of their skin. (In some patients, peeling is limited to the feet and hands.) Along with that, sufferers often feel itching and redness -- symptoms that can appear from birth or develop later in life. Although the exact cause is unknown, <a href=" http://www.nature.com/jid/journal/v130/n6/full/jid201023a.html" target="_hplink">a mutation in the TGM5 gene</a> has been identified in many sufferers.
Platelet Storage Pool Deficiency
This is a blanket designation for several rare platelet abnormalities, most of which lead to mild or moderate bleeding disorders. <a href="http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5034" target="_hplink">According to the NIH,</a> the problem stems having limited granules -- the parts of platelets that, among other things, store ADP -- the energy released when a molecular bond is broken. That reduction in storage space inhibits the platelets' ability to secrete <a href="http://www.biology-online.org/1/2_ATP.htm" target="_hplink">ADP</a> in a speedy fashion, which is thought to be what causes the bleeding. Classic symptoms of a Platelet Storage Pool Deficiency are nosebleeds, excessive bruising, and profuse bleeding in surgery.·
Only nine people in the United States are known to have this disease, which was just given a name in a recent study in the<em> New England Journal of Medicine</em>. ACDC, or arterial calcification due to CD73 deficiency, results in calcium build-ups in the arteries below the waist of sufferers and in the joints of their hands and feet. <a href="http://rarediseases.info.nih.gov/files/NIH ArterialCalcNEJM-final.pdf" target="_hplink">According to the NIH,</a> the breakthrough discovery found that the disease is related to a variant in the NT5E gene.3
<a href="http://rarediseases.info.nih.gov/GARD/Condition/6191/Conversion_disorder.aspx" target="_hplink">This condition,</a> which typically occurs after an extremely stressful emotional event, causes a person to experience sudden blindness or paralysis that can't be otherwise explained. People with mental illlnesses are at particularly high risk and psychological treatment can help lessen the symptoms.·
Ochronosis results in black or blue external tissues, often the ear cartilage or eye, though it can occur throughout the body. It affects people who suffer from certain metabolic disorders, but it can also be caused by exposure, though <a href="http://www.ncbi.nlm.nih.gov/pubmed/11705248" target="_hplink">scientists</a> aren't exactly sure to what. Not just a cosmetic issue, the affected areas can become brittle and degenerate over time.
This condition, which is caused by genetic mutations in the so-called ACADVL gene, keeps people from converting certain fats to energy. <a href="http://rarediseases.info.nih.gov/GARD/Condition/5508/VLCAD_deficiency.aspx" target="_hplink">According to the NIH,</a> the deficiency often presents during infancy in symptoms including low blood sugar, weakness, and lethargy.
As the name suggests, Hairy Tongue is a condition in which the tongue develops a black, hairy texture. <a href="http://www.mayoclinic.com/health/black-hairy-tongue/DS01134 " target="_hplink">According to the Mayo Clinic,</a> the disease is "harmless" and is caused by an overgrowth of bacteria in the mouth, which can be treated with antibiotics. <a href="http://rarediseases.info.nih.gov/GARD/Condition/6561/Hairy_tongue.aspx" target="_hplink">The NIH reports</a> that hairy Tongue can also present as brown, yellow, or green discoloration. ·
Ochoa (Urofacial) Syndrome, or, Peculiar Facial Expression
This obscure, inherited disorder presents at birth and causes infants to grimace when, in fact, they are attempting to smile. <a href="http://www.everydayhealth.com/health-center/ochoa-syndrome.aspx" target="_hplink">The disorder also includes</a> an extreme urinary abnormality: an obstruction that interrupts the connection between nerve signals in the spinal cord and bladder, leading to incontinence. <a href="http://rarediseases.info.nih.gov/GARD/Condition/104/Ochoa_syndrome.aspx" target="_hplink">Though treatment does exist</a> in the form of antibiotics and bladder re-education, some patients can develop renal failure in their teens and 20's, which can be life-threatening.
This syndrome, caused by a particular calcified ligament or elongated bone, frequently causes sufferers to feel that something is stuck in their throat. (Scientists don't know the reason behind said elongation/calcification.) Other symptoms can include ear and throat pain as well as difficulty swallowing. <a href="http://rarediseases.info.nih.gov/GARD/Condition/9401/Eagle_syndrome.aspx" target="_hplink">According to the NIH,</a> it can be treated surgically or non-surgically with steroid injections and other anti-inflammatories.
<a href="http://www.mayoclinic.com/health/progeria/DS00936 " target="_hplink">According to the Mayo Clinic,</a> only around 130 cases of this devastating genetic disorder have been documented since it was discovered in 1886. Affected babies normally appear normal at birth, but within 12 months begin to have symptoms like hair loss and wrinkles. <a href="http://www.mayoclinic.com/health/progeria/DS00936 " target="_hplink">According to the Mayo Clinic,</a> progeria is caused by a genetic mutation, but not one that's passed down through families; it's a chance event that affects only one egg or sperm. The average life expectancy for sufferers is 13.