What is lipoid Proteinosis?

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 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.

How many people are affected by Urbach wiethe disease?

Urbach–Wiethe disease is a very rare recessive genetic disorder, with approximately 400 reported cases since its discovery.

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 does the medical term lipoid mean?

resembling fat
fatty; resembling fat. noun. a fat or fatlike substance, as lecithin or wax. lipid.

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).

Who has Urbach-Wiethe disease?

Ralph Adolphs, Antonio Damasio and Daniel Tranel at the University of Iowa have been working with SM for over a decade. She is a 44-year old mother-of-three, who suffers from a rare genetic condition called Urbach-Wiethe disease, which has caused parts of her brain to harden and waste away.

How is Urbach-Wiethe disease contracted?

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.

What is lipoid pneumonia?

Lipoid pneumonia is an uncommon disease caused by the presence of lipid in the alveoli. It is classified into two major groups, depending on whether the lipid/oil in the respiratory tract is from an exogenous (exogenous lipoid pneumonia) or endogenous/idiopathic (endogenous lipoid pneumonia) source.

How do you get lipoid pneumonia?

Exogenous lipoid pneumonia (ELP) is a rare form of pneumonia caused by inhalation or aspiration of a fatty substance. ELP has been reported with inhalation or ingestion of petroleum jelly, mineral oils, “nasal drops,” and even intravenous injection of olive oil.

Are there people with no amygdala?

Now, scientists have confirmed that a missing amygdala results in similar behavior in humans, according to a study in the journal Current Biology. “There’s not very many humans with this sort of brain damage,” said Justin Feinstein, the study’s lead author and a clinical neuropsychologist at the University of Iowa.

How serious is lipoid pneumonia?

Symptoms can get worse over time or come on suddenly. Animal fats cause more severe reactions than vegetable and mineral oils. Depending on the lung damage, lipoid pneumonia can be severe and life-threatening.