Lipid proteinosis

Common Name(s)

Lipid proteinosis

Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically heterogeneous, with affected individuals displaying differing degrees of skin scarring and infiltration, variable signs of hoarseness and respiratory distress, and in some cases neurologic abnormalities such as temporal lobe epilepsy. Histologically, there is widespread deposition of hyaline (glycoprotein) material and disruption/reduplication of basement membrane (summary by {13:Hamada et al., 2002} and {14:Hamada et al., 2003}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lipid proteinosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lipid proteinosis" returned 3 free, full-text research articles on human participants. First 3 results:

Characteristics of serum lipid metabolism in patients with autoimmune pulmonary alveolar proteinosis.
 

Author(s): Yan Li, Xin-Lun Tian, Yao-Song Gui, Ai-Ping Ma, Xue Li, Ni Zeng, Peng Zhang, Yong-Zhong Zhan, Guo-Zhen Li, Kai-Feng Xu

Journal: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 2014 Dec;36(6):645-9.

 

To study the serum lipid panels in consecutive autoimmune pulmonary alveolar proteinosis(APAP)patients and analyze their relationship with anti-granulocyte macrophage-colony stimulating factor(GM-CSF)antibody and other markers.

Last Updated: 31 Dec 1969

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Rituximab therapy in pulmonary alveolar proteinosis improves alveolar macrophage lipid homeostasis.
 

Author(s): Anagha Malur, Mani S Kavuru, Irene Marshall, Barbara P Barna, Isham Huizar, Reema Karnekar, Mary Jane Thomassen

Journal:

 

Pulmonary Alveolar Proteinosis (PAP) patients exhibit an acquired deficiency of biologically active granulocyte-macrophage colony stimulating factor (GM-CSF) attributable to GM-CSF specific autoantibodies. PAP alveolar macrophages are foamy, lipid-filled cells with impaired surfactant ...

Last Updated: 31 Dec 1969

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Impaired lipid metabolism in idiopathic pulmonary alveolar proteinosis.
 

Author(s): Xinlun Tian, Jinmei Luo, Kai-Feng Xu, Lan Wang, Jiong Zhou, Ruie Feng, Yaosong Gui, Juan Wang, Wenbing Xu, Yi Xiao, Yuanjue Zhu

Journal:

 

It is well known that lipids abnormally accumulate in the alveoli during idiopathic pulmonary alveolar proteinosis (PAP). It is unclear, however, whether lipids also abnormally accumulate in serum. This study investigated the serum lipid panels in idiopathic PAP patients and explored ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Lipid proteinosis" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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