Top 10 Strangest Diseases In Medical History
The most strange anomalies in medicine, all of them rare diseases with bizarre signs and symptoms. These are ordered from greatest to smallest frequency of occurrence:
10-Congenital insensitivity to pain
Frequency: 100 documented cases in U.S. The frequency in other countries is unknown and it is usually undiagnosed.
Cause: Recently discovered. It is caused by a mutation in a gene implicated in the synthesis of a type of sodium channel which is mainly located in neurons associated with the reception and transmission of pain stimulus.
Description: They are totally normal people in the sense of touch and in the sensibility of cool, heat, pressure and tickling. However, a normal act which would cause does not cause them any painful sensation. As a result of this, they usually die younger from injuries because of their lack of pain perception. They must be under supervision from an early age so that they can’t injure themselves.
9-Moebius Syndrome
Frequency: Around 80 documented cases in Spain, 200 in U.K. In Europe, around 300 kids appear with this syndrome each year.
Cause: Unknown. Nobody knows if this disease affects nerves, brain stem or muscles. There are many and varied hypothesis, but all without proof.
Description: Because some face nerves are not developed, the people who are born with this syndrome lack face expression. They cannot smile, frown, move the eyes laterally or control the blinking. They are often found sleeping with open eyes. They have great difficulties in sucking, swallowing, speaking and any activity using the muscles of the face.
8-True Hermaphroditism
Frequency: Around 500 documented cases in the world. The real frequency in the population is not known.
Cause: Hermaphrodites are chimeras. It is caused by the fusion of two zygotes of different sex. Zygotes that were destined to being twins end up fusing and becoming an individual that, genetically, is a woman and a man at the same time. It is unknown why that fusion of zygotes takes place.
Description: Hermaphrodites have both testicular and ovarian tissue. These two can be mixed, which is called ovotestis, or be separated elements. The external genitals are ambiguous and have components of both sexes. Hermaphrodites can have feminine or masculine appearance.
7-Fibrodysplasia ossificans progressiva
Frequency: 200-300 documented cases around the world. This anomaly is often undiagnosed. It is estimated that one case appears in two million births.
Cause: Unknown. It is a disease with autosomal dominant inheritance. Several genes involved in synthesizing bone growth factors are affected.
Description: Any small injury to connective tissue (muscles, ligaments, and tendons) can result in the formation of hard bone around the damaged site. Children are born with a characteristic malformation of the great toes and begin to develop heterotopic (extra) bone formation during early childhood. Eventually, a second skeleton begins to form that severely restricts mobility.
In many cases, injuries can cause joints to become permanently frozen in place. The growths cannot be removed with surgery because such removal causes the body to “repair” the area of surgery with more bone.
6-Ondine’s curse (Congenital Central Hypoventilation Syndrome)
Frequency: Between 200-300 well-known cases all around the world. It is thought that the well-known cases are only the tip of iceberg and that, in fact, 1 baby out of 200,000 could have this disease.
Cause: Partially known. The main cause is one or several mutations of PHOX2B gene with autosomal dominant inheritance.
Description: The mechanisms of the involuntary breathing do not work properly. When sleeping, the chemical receptors that receive signals (low oxygen or the increase of carbon dioxide in blood) do not transmit the necessary nervous signals so that the breathing occurs.
In its weakest form, the patient will be able to continue living but, because of unrestful sleep due to lack of oxygen, will be sleepy during the day.
In the most serious forms, sleeping means certain death. It usually appears at birth, and most of the newborns die without the cause even being known. Nevertheless, there are some people for whom the disease gets worse progressively. They are treated with assisted ventilation during the night. In those cases, any sleep without the indicated oxygen therapy will mean death.
5-Proteus Syndrome
Frequency: At the moment, 200 documented cases all around the world. It seems that one case appears out of more than a million births.
Cause: Unknown. It is probably caused by a somatic mosaicism of a lethal dominant gene. Others have suggested that it is caused by a recombination in the embryo, giving rise to three types of cells: Normal cells, cells of minimum growth and cells of excessive growth.
Description: A great amount of cutaneous and subcutaneous malformations, with hyperpigmentation, vascular malformations and irregular growth of bones. Partial gigantism of the limbs and the excessive growth of the fingers, although some zones of the body grow less than normal. All of this causes extreme disfigurement. Joseph Merrick, the famous “Elephant Man”, suffered from this syndrome.
4-Progeria (Hutchinson-Gilford Syndrome)
Frequency: Around 100 documented cases. There seems to be one case of progeria out of every 8 million births, although the number could be greater since it often goes undiagnosed.
Cause: Partially Known. Most of the cases of progeria take place due to mutations of autosomal dominant inheritance in the LMNA gene. This gene participates in the maintenance of nuclear stability and the organization of chromatin. It could also take part in the regulation of genetic expression, synthesis and repair of DNA
Description: People with progeria age very quickly. When they are newborns they have a totally normal appearance. but as they grow they quickly lose their hair, acquire wrinkles and suffer severe damage to the arteries (atherosclerosis) that causes death in the first years of adolescence.
3-True Human Tail (Vestigial Tail)
Frequency: Around 100 documented cases all around the world.
Cause: It isn’t well known. Some scientists think it is caused by a genetic mutation.
Description: The presence of a vestigial tail in the final zone of the sacral bone. This tail is compound of connective tissue, muscles, blood vessels, nerves, skin, vertebrae and cartilage.
2-Parasite Twin (Fetus in Fetus)
Frequency: Around 100 documented cases around the world.
Cause: It is an exaggerated case of Siamese twins. Two twins don’t separate completely when they are zygotes. One of these twins is healthy, whereas the other degenerates, remaining inside the healthy twin and depending completely on him. It is unknown why these twins don’t separate correctly.
Description: When the host fetus is able to survive childbirth, he or she can show a swelling in the zone where the parasitic fetus locates itself. 80% of the time, this is in the abdominal region, but it can also occur in the skull, the sacral region, or the scrotum.
Organs will be observed in places where they wouldn’t have to exist. There are very developed parasitic fetuses and others that only have a small number of organs.
1-Human Werewolf Syndrome (Congenital Hypertrichosis Lanuginosa)
Frequency: 40-50 documented cases around the world since its discovery. The non-inherited incidence is one case in every 1 to 10 billion births.
Cause: Unknown. Some scientists state that it is caused by a mutation with autosomal dominant inheritance. The majority is caused by familiar inheritance and, very rarely, the mutation occurs spontaneously.
Description: People who suffer from it are completely covered in lanugo hair except on the palms of their feet and hands. The maximum hair length that has been documented is about 25 centimeters.
Lanugo is the thin, off-white hair that appears on the shoulders and arms of newborns; it normally disappears during the first month of life. In those who suffer from this syndrome, lanugo persists, and can grow forever or disappear over the years.
(Content By Shora, MedTempus)
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