Thursday, April 9, 2015

10 most bizarre medical cases worldwide

1. Werewolf Syndrome (Congenital hypertrichosis lanuginosa)

Frequency: 40-50 documented cases worldwide since its discovery. The natural incidence (excluding cases where families) is estimated at one case among one billion or 10 billion people. Cause: Unknown. Is thought to be a mutation that follows an autosomal dominant inheritance. Most are family heritage and, very rarely, the mutation occurs spontaneously.

Síndrome hombre lobo

Description: People who have it are completely covered by a long lanugo hair except the palms of the hands and feet. The length to which hair can reach is 25 inches. The lanugo is fine and white hair (like fuzz) on newborns in shoulders and arms and usually disappears after the first month after birth. In those with this form of hypertrichosis lanugo persists and can grow throughout life or disappear over the years.

2. Parasitic Twin (Fetus in Fetu)

Frequency: About 100 cases documented worldwide. Cause: This is an overstatement of the case of Siamese. Two twins arrive not be completely separated when they are zygotes and are joined by some area. One such twin healthy grows while the other is being atrophy within the healthy twin completely depending from it. It is unknown why the twins are not separated properly.

Gemelo parásito

Description: When the host natal fetus survives, it may show a bulge in the area where the parasite fetus is positioned. 80% of the time is in the abdominal region, but can also be found in the skull, sacrum, scrotum .... You can also go unnoticed at first. Later, as the person will also do the parasite growing fetus. When imaging organs are found in places where they should not exist but can also be tiny legs, arms, fingers, hair or anything else that has developed fetus. No two cases of fetus in fetus, since the fetus parasites may be in very different areas host fetus and, therefore, also be different degree of growth and elements that have come to develop. There fetus highly developed parasites and others who only have a small number of bodies.

3. True Human Tail (Vestigial Tail)

Frequency: About 100 cases documented worldwide. Cause: It is not known in depth. It is believed to occur by mutation of the genes responsible for producing the cell death program cells were intended to form a queue.

Cola vestigial

Description: the presence of a vestigial tail is observed in the end zone of the sacrum, coccyx level to. This queue is composed of connective tissue, muscles, blood vessels, nerves, skin, vertebrae and cartilage.

4. Progeria (Hutchinson-Gilford syndrome)

Frequency: Around 100 documented cases. It is estimated that a case of progeria appear for every 8 million births, but could be higher since often goes undiagnosed. Cause: Mostly known. Most cases occur progeria by autosomal dominant mutations in the LMNA gene inheritance. This gene is involved in maintaining the stability and nuclear chromatin organization. It could also be involved in regulation of gene expression, synthesis and DNA repair.

progeria

Description: Individuals with progeria age very rapidly since childhood. At birth have a completely normal appearance but are growing ever more slowly than other children and develop a very characteristic facial expression. Lose hair, acquire wrinkles and suffer severe damage of the arteries (atherosclerosis) that leads them to death in early adolescence.

5. Proteus Syndrome

Frequency: 200 cases documented worldwide today. It is estimated that a case of more than one million births appears. Cause: Unknown. Some authors argue that it is probably due to a somatic mosaicism of a lethal dominant gene. Other authors suggest that due to a recombination in the embryo resulting three cell types: normal cells, cell growth and minimal overgrowth.

Joseph merrick

Description: There are a lot of skin and subcutaneous malformations, hyperpigmentation, vascular malformations and irregular bone growth. Partial gigantism of the limbs or fingers overgrowth occurs while areas of the body grow less than they should. All this causes an extreme distortion of the person who normally stigmatize socially. Josep Merrick, the famous "Elephant Man", suffered from this syndrome.

6. Curse of Ondina (primary alveolar hypoventilation)

Frequency: Between 200-300 known cases worldwide. Because sudden death is thought that the known cases are only the tip of the iceberg and that in fact one baby out of 200,000 born could have this disease. Cause: Mostly known. The main cause is a mutation or more of PHOX2B gene, autosomal dominant inheritance. The mechanisms of involuntary breathing does not work properly. When sleeping, the chemical receptors that receive signals (low oxygen or increased carbon dioxide in the blood) fail to transmit nerve signals necessary for breathing to occur.

maldición de ondina

Description: In milder forms of the curse of Ondina, the subject may continue to live, but because sleep is not restful by lack of oxygen during the day will be sleepy, it is easily fatigued, have headaches, increased the level of red blood cells and etc ... In more severe forms, in which sleep means certain death usually occurs from birth, and most infants die without that often come to know the cause. However, in those where the disease has progressively worsened and become increasingly risking life sleeping, usually treated with assisted ventilation overnight. Still, despite all these treatments, any neglect of falling asleep without the required oxygen therapy, mean death.

7. Fibrodysplasia ossificans progressiva
Frequency: 200-300 cases documented worldwide. The little knowledge that doctors do it often not diagnosed. It is estimated that a case occurs for every two million births. Cause: This is an autosomal dominant disease. The cause of the disease is a mutation in the gene Activin receptor type IA. Are thought to be involved genes responsible for synthesizing various bone growth factors.

Fibrodisplasia osificante progresiva FOP

Description: Repeated episodes of inflammation of the soft tissues and the development of subcutaneous tumors and muscles are given in this disease. These lesions result in bone formation in sites where it should never occur, such as ligaments, muscles, tendons, joint capsules ... Trauma also trigger and advancing the soft tissue ossification. Progressively, the individual will lose more and more mobility until, inability to move the muscles responsible for breathing (being ossified), die by suffocation.

8. True hermaphroditism

Frequency: About 500 cases documented worldwide. The actual frequency in the population is unknown. Cause: The hermaphrodite person is a chimera. It is produced by the fusion of two zygotes of different sexes. That is, first fecundaría sperm into an egg and then another sperm fecundaría another egg more. Zygotes would be formed and they were meant to be twins, have just merging and becoming a unique individual who is genetically woman and man at the same time. It is unknown why this fusion of zygotes occurs.


Description: hermaphrodites have both ovarian and testicular tissue tissue. These two can be mixed, which is called ovotestes be on one side or one testicle and the other ovary. The external genitalia are ambiguous and have components of both sexes. The hermaphroditic individuals may have male or female appearance.

9. Moebius Syndrome

Frequency: About 80 cases documented in Spain, 200 in England ... In Europe, appear around 300 children with this syndrome each year. Cause: Unknown. It is not even known whether the nerves, brainstem or muscles that are involved in the origin of the disease. There are many different hypotheses but without supporting evidence.

sindrome moebius

Description: Because some facial nerves are not developed, people born with this syndrome lack of facial expression. They can not smile or frown, etc. Nor can move laterally or control eyes flicker. Often they can be found sleeping with his eyes open. Have great difficulty in sucking, swallowing, speaking and any activity that are involved muscles of the face.

10. Congenital Insensitivity to pain

Frequency: 100 cases documented in the United States. Frequency in other areas is unknown and there is usually diagnosed by unnoticed. Cause: Recently Discovered. Is due to a mutation in a gene responsible for the synthesis of a sodium channel type found primarily in neurons that receive and transmit pain stimuli.

insensibilidad congénita

Description: These are totally normal individuals in tact and sensitivity to cold, heat, pressure and tingling. However, before any action that would cause pain in normal people (like sticking a needle) does not cause any painful sensation in those with this insensitivity. As a result, tend to die younger trauma and multiple injuries to feel no harm. They must be under supervision at an early age not to injure themselves.

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