What is lipoid Proteinosis?
Definition. Lipoid proteinosis (LP) is a rare disease that affects the skin and the brain. Three distinctive features characterize the disease: a hoarse voice, unusual growths on the skin and mucus membranes, and damage to the temporal lobes or hippocampus of the brain.
What causes Urbach-wiethe disease?
Urbach-Wiethe disease is an autosomal recessive disorder caused by mutations in the ECM1 gene on chromosome 1, which encodes extracellular matrix protein 1 (ECM1) 1-3. ECM1 is a key structural component of basement membranes and the extracellular matrix, providing strength to tissues 4.
How many people are affected by Urbach-wiethe?
Urbach–Wiethe disease is a very rare recessive genetic disorder, with approximately 400 reported cases since its discovery. It was first officially reported in 1929 by Erich Urbach and Camillo Wiethe, although cases may be recognized dating back as early as 1908.
What is Urbach-wiethe disease?
Urbach-Wiethe syndrome is a rare autosomal recessive disorder predisposing to increased collagen deposition in the skin and soft tissues. Characteristic features include monoliform blepharosis, ankyloglossia and bilateral symmetric basal ganglia calcification.
Is lipoid Proteinosis curable?
There is no known effective treatment for lipoid proteinosis.
What causes lipoid Proteinosis?
Lipoid proteinosis is caused by mutations in the ECM1 gene. This gene provides instructions for making a protein that is found in most tissues within the extracellular matrix, which is an intricate lattice that forms in the space between cells and provides structural support.
What part of the brain does Urbach-wiethe disease affect?
(1994, 1995) investigated a patient suffering from Urbach–Wiethe (UW) syndrome, a very rare autosomal recessive disease, which produces bilateral calcifications in the anterior medial temporal lobes, especially of the amygdalae, in 50–75% of cases (Newton et al., 1971; Staut and Naidich, 1998).
What disease makes you fearless?
SM has an unusual genetic disorder called Urbach-Wiethe disease. In late childhood, this disease destroyed both sides of her amygdala, which is composed of two structures the shape and size of almonds, one on each side of the brain. Because of this brain damage, the woman knows no fear, the researchers found.
Which region’s of the brain is likely to be affected by Urbach-wiethe disease?
Several experiments with humans have also implicated the amygdala in Pavlovian learning. Bechara et al. (1995) compared a patient with Urbach-Wiethe disease, which produces brain damage confined to the amygdala complex, to a patient with hippocampal damage due to anoxia.
What are the early symptoms of lipoid pneumonia?
The symptoms that are commonly observed in cases of exogenous lipoid pneumonia include fever, weight loss, cough, dyspnea, chest pain, and hemoptysis.
How do you get rid of lipoid pneumonia?
Lipoid Pneumonia Treatment
- Enzyme replacement therapy.
- Whole lung lavage, or washing the lungs with saline solution.
- Steroid medication.
- Oxygen support.
- Respiratory therapy
What emotion could sm not recognize?
S.M. offers a rare peek at an emotional life created by a human brain deprived of amygdala neurons. An early study of S.M., published in Nature, described her as unable to recognize facial expressions of fear [4].
Are there people born without fear?
What do you call a person who has no fear?
unafraid Add to list Share. When you’re unafraid, you’re not the least bit frightened. If you’re an outspoken person, you are unafraid of saying exactly what you think. You can use the adjective unafraid for anyone who acts in a fearless or brave way, or who feels no anxiety.
What emotions does the amygdala control?
The amygdala is responsible for processing strong emotions, such as fear, pleasure, or anger. It might also send signals to the cerebral cortex, which controls conscious thought. Signals sent from the thalamus to the autonomic nervous system and skeletal muscles control physical reactions.
How do you fix lipoid pneumonia?
Lipoid pneumonia treatment depends on the cause. If you have endogenous lipid pneumonia, treating the underlying health problem can help.
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Other treatments might include:
- Enzyme replacement therapy.
- Whole lung lavage, or washing the lungs with saline solution.
- Steroid medication.
- Oxygen support.
- Respiratory therapy
How do you treat lipoid pneumonia at home?
Resting and taking medication at home will be sufficient to treat some cases of lipoid pneumonia, but severe cases may require hospital treatment. Doctors treat most cases of lipoid pneumonia with corticosteroids, which reduce inflammation in the lungs.
Is lipoid pneumonia permanent?
Lipoid pneumonia can be fatal, but with the proper medical support and treatment, recovery is also possible. Any time there is a substantial acute injury to the lungs, however, patients may have a permanent decreased lung capacity, even after they have recovered.
Can lipoid pneumonia go away by itself?
How do you know if your amygdala is damaged?
Researchers have found that lesions on the amygdala can cause hypervigilance in response to perceived fear in others. In other words, the person with amygdala damage becomes sensitive to minor facial expressions, interpreting them as a sign of a possible threat.
What do you call a person who is afraid of everything?
The takeaway
Pantophobia refers to a widespread fear of everything. Pantophobia is no longer an official diagnosis. But people do experience extreme anxiety triggered by many different situations and objects.
What do you call a person who is not afraid of anything?
What fears are you born with?
We are born with only two innate fears: the fear of falling and the fear of loud sounds.
What do you call someone who gets nervous easily?
Cowardly (adj.)
While fearful might be used more to describe someone in a certain situation, cowardly would be more of a character trait–someone who is always easily scared. Therefor, calling someone a coward would be considered an insult.
What disorders are associated with damage to the amygdala?
What causes damage to the amygdala? Structural or functional changes in the amygdala are associated with a wide variety of psychiatric conditions such as various anxiety disorders such as post-traumatic stress disorder (PTSD), phobia, panic disorders, depression, schizophrenia, and autism.