Before you delve too deeply into this list of rare medical conditions – it would be remiss not to warn you that some of these conditions are stomach churning.
Elephantiasis is a symptom of a variety of diseases which all have a common thread where parts of a persons body swell to massive sizes. It can be caused by chronic lymphangitis, parasitic worms, an immune disorder affecting the lymph vessels, and in the case of the more known ‘Elephant Man’ a genetic disorder. The most common form is caused by a worm thats transmitted to humans by the female mosquito.
The condition is thought to threaten 1.4 billion people, with over 120 million currently affected, and 40 million disfigured. The variants caused by worms are treatable with medication and take around eight weeks to cure. Sadly those least able to afford medication are typically the most affected.
2. Hypertrichosis, “Werewolf Syndrome”
Hypertrichosis can be both genetic/congenital and acquired. The congenital variant is exceptionally rare with only 50 documented cases since the middle ages. Treatment for congenital variants usually involves laser hair removal.
The acquired variant is commonly associated with an external factor such as a drug reaction – the most common being the use of topical minoxidil. Thankfully the acquired variants are usually treatable by removing the external cause.
Although it’s unusual, cats are also affected by this condition.
3. Porphyria – “Vampire Syndrome”
Porphyria is not a single disease, rather a group of atleast eight disorders, a common feature of all disorders is the buildup in the body of chemical porphyrins. Although these are natural, sufferers lack the ability to control the levels and the subsequent accumulation leads to the condition.
The world wide prevalence ranges from 1 in 500-50,000 people, however this includes mild cases.
The photo shown is an extreme case, however symptoms can include mental changes, paralysis, red urine, sensitivity to sunlight, fragile skin, and itchy blisters that take weeks to heal.
There is no broad definition for this neurodevelopmental disorder, however its is typically accepted when the head circumference is more than two standard deviations below the mean for age and gender. The disorder may stem from a wide variety of conditions. Life expectancy is typically reduced and the outlook for normal brain function is poor – although this does depend on the presence of associated abnormalities.
The girls above are part of wonderful and supportive family – you can read more about their story here: http://www.thehartleyhooligans.com/
5. Fibrodysplasia Ossificans Progressiva – “Statue Syndrome”
Fibrodysplasia Ossificans Progressiva or FOP is a disorder where over time the muscles and connective tissues such as tendons and ligaments are ossified – or turned to bone. This constrains movement, and can eventually cause the body to be permanently locked in place. Surgery to remove the effected areas have been shown to prompt the body to ‘repair’ with even more bone.
Typically the first symptoms happen before the age of 10. Around 700 cases of FOP have been reported worldwide making it one of the most rare diseases. There is no known cure, and treatments exist only to help the victims quality of life.
6. Cotard delusion – Zombie Syndrome
Cotard delusion also known as walking corpse syndrome is a rare mental illness in which the affected person holds the belief that they are dead, however strangely 55% of cases believe that they are also immortal. Sufferers have a strong belief that they are rotting and have lost blood and internal organs.
Treatments include both pharmacological drug treatments such as anti-psychosis, depression, and mood stabilizers. Electroconvulsive therapy (shock therapy) has also proven effective. This condition although sounding outlandish has been featured in TV shows such as Hannibal, Blackbox, and Scrubs.
7. Progeria – “Accelerated Aging Syndrome”
Progeria is an extremely rare genetic disorder whereby symptoms of aging manifest at a young age. It is a condition which which is caused by a new genetic mutation rather than being hereditary, as carriers do not usually live long enough to reproduce. The disorder has a very low incidence rate effecting an estimated 1 per 8 million children born. There are currently 100 known cases in the world, although as many as 150 are suspected to be undiagnosed.
Despite many efforts, no treatment has been proven effective and hence doctors focus on reducing complications such as heart disease. Most sufferers do not live beyond 13 years of age and die from conditions associated with the elderly such as heart attack or stroke.
8. Epidermodysplasia verruciformis – “Tree man Illness”
Epidermodysplasia verruciformis also known as treeman illness is a extremely rare genetic skin disorder. Its typically characterized by a high susceptibility to the skin form of the HPV virus. The resulting massive uncontrolled HPV infections result in rapid growth of scaly macules and papules which resemble tree bark.
No treatment has yet been found, with doctors focusing on the removal. The photo above features an Indonesian man named Dede Koswara, who was featured in the Discovery Channel show ‘Treeman: Search For The Cure’. Discovery funded his surgery to remove the warts in 2008, removing 6kg of warts from his body, in all 95% were removed from his body. Sadly they grew back and Dede faces surgery twice a year to keep them at bay.