Epidermodysplasia Verruciformis
A very rare skin disorder, Epidermodysplasia verruciformis is characterized by a susceptibility to human papilloma virus, and the growth of horrifying tree-bark-like warts over the body. The world at large first heard about this dreadful disease in 2007, when the case of Dede Koswara showed up on the internet with a similar disease. Dede was featured on shows on both Discovery and The Learning Channel. He has since undergone multiple surgeries to remove his warts, with pounds of them hacked off at a time. Unfortunately, the warts of both diseases are very aggressive, and grow back immediately. It is estimated that Dede will need at least two surgeries a year to maintain a reasonably normal appearance.
Porphyria
Porphyria is an inherited genetic condition that results in the buildup of porphyrins (organic compounds that have various functions in the body, including the production of red blood cells). Porphyria attacks the entire body, particularly the liver, and can cause all manner of mental health issues. Sufferers of cutaneous porphyria have to limit their exposure to sunlight, which would cause their skin to swell and blister. It is thought that the appearance of people with porphyria may have helped give rise to legends of vampires and werewolves.
Diprosopus
Diprospus (sometimes called Craniofacial duplication) is a rare disorder in which the face is duplicated on the head (as in the picture above). This is not to be confused with fetus in fetu (item 9) which is a joining of two separate fetuses; diprosopus is caused by a protein called (believe it or not) “sonic hedgehog homolog”. The odd name is due to a controversial tradition in molecular biology to use unusual names for genes. The protein determines the makeup of the face, and when there is too much of it, you get a second face in a mirror image. If you do not have enough of the protein, you can end up with underdeveloped facial features. Children with this defect are normally stillborn, but a young girl, Lali Singh, born in 2008 survived for 2 full months before dying of a heart attack.
Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford Progeria syndrome (progeria) will be familiar to people old enough to remember the television program That’s Incredible from the ’80s in which a young sufferer of the disorder appeared. The disease causes premature aging – so rapidly that a young child can look like a very old man (or, if I may be so callous as to point out the obvious, an alien – as in the photograph above). The disease is especially interesting for scientists as it may lend clues to the natural aging process in man. The disease is caused by a genetic mutation, and does not pass from parent to child. There is no known cure, and most children with the disease do not live beyond the age of thirteen – usually dying of stroke or heart attack (diseases usually associated with old age).
Cutaneous Porphyria
Cutaneous porphyria is a disorder that causes blisters, excess hair, swelling, and necrosis of the skin. It can cause red colored teeth and fingernails, and after exposure to sun, urine can turn purple, pink, brown, or black. The disease is thought to be connected to the many werewolf and vampire legends of the past, where a sufferer (who would have lived apart from society) might have been confused for a monster. The disease is part of the more general group of disorders called porphyrias which cover a range of mental and physical disorders due to the overproduction of certain enzymes in the body. The disease gets its name from the Greek word “porphura” which means “purple pigment”.
Petero Byakatonda
Petero Byakatonda is a boy from a small, rural town in Uganda who suffers from crouzon syndrome. This affects about one in every 25,000 births, but Petero’s case is an extreme one. Crouzon syndrome causes malformation of the skull, which in turn pushes the eyeballs out of their sockets and the ears down, leading to problems with sight and hearing. In developed countries, the deformities caused by crouzon syndrome are usually treated very soon after birth but Petero did not receive this treatment as he lives hundreds of miles away from a hospital.
Petero’s neighbors tormented and shunned him for his appearance and he locked himself away in his room, hardly ever leaving the house. A doctor noticed his condition when driving through Petero’s village. The doctor raised enough money for Petero to travel to Austin, Texas, for life-changing surgery. He spent six months there while doctors re-shaped his skull. This put a lot pressure off his optic nerve and brain. A second operation was needed to reconstruct the bone around Petero’s eyes. Complications occurred during the second surgery—he lost 80% of his total blood volume and his condition turned critical. Luckily, he survived and he now lives a happy life in his village.
José Mestre
José Mestre from Lisbon, Portugal, developed a huge facial deformity which started growing on his lips when he was fourteen. Over the years, this tumor grew to be over five kilograms in weight. It caused him to become blind in one eye and made it very hard for him to breathe, eat and sleep. He spent forty years of his life without treatment because of “years of medical misinformation, some misdiagnosis, lack of finances, and reluctance to undergo treatment due to religious beliefs.”
In 2010, José travelled to Chicago to undergo four operations to remove his tumor and restore his facial features. The tumor mass was removed completely in the first operation and the next three aimed to reconstruct the face. The operations were successful and José travelled back to Lisbon a few weeks after treatment.
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