Learn About Lipoid Proteinosis

What is the definition of Lipoid Proteinosis?

Lipoid proteinosis is a condition that results from the formation of numerous small clumps (deposits) of proteins and other molecules in various tissues throughout the body. These tiny clumps appear in the skin, upper respiratory tract, the moist tissues that line body openings such as the eyelids and the inside of the mouth (mucous membranes), and other areas.

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What are the causes of 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. The ECM1 protein can attach (bind) to numerous structural proteins to provide strength to tissues. It is also involved in the growth and maturation (differentiation) of cells, including skin cells called keratinocytes. The ECM1 protein may also regulate the formation of blood vessels (angiogenesis).

How prevalent is Lipoid Proteinosis?

Lipoid proteinosis is thought to be a rare condition; fewer than 500 cases have been described in the scientific literature. This condition occurs more frequently in certain areas of the world, including Turkey, Iran, and the Northern Cape province of South Africa.

Is Lipoid Proteinosis an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Lipoid Proteinosis Local Doctors?
Elite
Highly rated in
2
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University Of Bonn

School Of Medicine And Health Sciences 
Oldenburg, NI, DE 26129

Rene Hurlemann is in Oldenburg, Germany. Hurlemann is rated as an Elite expert by MediFind in the treatment of Lipoid Proteinosis. They are also highly rated in 2 other conditions, according to our data. Their top areas of expertise are Lipoid Proteinosis, Major Depression, Post-Traumatic Stress Disorder, and Memory Loss.

Distinguished
Highly rated in
5
conditions

Ministry Of Education

Key Laboratory Of Otolaryngology Head And Neck Surgery, Capital Medical University 
Beijing, CN 10073

Wen Xu is in Beijing, China. Xu is rated as a Distinguished expert by MediFind in the treatment of Lipoid Proteinosis. They are also highly rated in 5 other conditions, according to our data. Their top areas of expertise are Lipoid Proteinosis, Perichondritis, Leukoplakia, and Spasmodic Dysphonia.

 
 
 
 
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Distinguished
Highly rated in
1
conditions

University Of Glasgow

Brain And Emotion Laboratory, Maastricht University 
Maastricht, LI, NL 

Ruud Hortensius is in Maastricht, Netherlands. Hortensius is rated as a Distinguished expert by MediFind in the treatment of Lipoid Proteinosis. They are also highly rated in 1 other condition, according to our data. Their top area of expertise is Lipoid Proteinosis.

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Who are the sources who wrote this article ?

Published Date: July 01, 2016Published By: National Institutes of Health

What are the Latest Advances for Lipoid Proteinosis?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.