Lipoid Proteinosis

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Xu, C. Lipoid Proteinosis. Encyclopedia. Available online: https://encyclopedia.pub/entry/4568 (accessed on 29 September 2026).

Xu C. Lipoid Proteinosis. Encyclopedia. Available at: https://encyclopedia.pub/entry/4568. Accessed September 29, 2026.

Xu, Camila. "Lipoid Proteinosis" Encyclopedia, https://encyclopedia.pub/entry/4568 (accessed September 29, 2026).

Xu, C. (2020, December 24). Lipoid Proteinosis. In Encyclopedia. https://encyclopedia.pub/entry/4568

Xu, Camila. "Lipoid Proteinosis." Encyclopedia. Web. 24 December, 2020.

Lipoid Proteinosis

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/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.

genetic conditions

References

Callizo M, Ibáñez-Flores N, Laue J, Cuadrado V, Graell X, Sancho JM. Eyelidlesions in lipoid proteinosis or Urbach-Wiethe disease: case report and review ofthe literature. Orbit. 2011 Oct;30(5):242-4. doi: 10.3109/01676830.2011.579685.Review.
Dogramaci AC, Celik MM, Celik E, Bayarogullari H. Lipoid proteinosis in theeastern Mediterranean region of Turkey. Indian J Dermatol Venereol Leprol. 2012May-Jun;78(3):318-22. doi: 10.4103/0378-6323.95447.
Kabre V, Rani S, Pai KM, Kamra S. Lipoid proteinosis: A review with two casereports. Contemp Clin Dent. 2015 Apr-Jun;6(2):233-6. doi:10.4103/0976-237X.156053.
Mcgrath JA. Lipoid proteinosis. Handb Clin Neurol. 2015;132:317-22. doi:10.1016/B978-0-444-62702-5.00023-8. Review.
Mondejar R, Garcia-Moreno JM, Rubio R, Solano F, Delgado M, Garcia-Bravo B,Rios-Martin JJ, Martinez-Mir A, Lucas M. Clinical and molecular study of theextracellular matrix protein 1 gene in a spanish family with lipoid proteinosis. J Clin Neurol. 2014 Jan;10(1):64-8. doi: 10.3988/jcn.2014.10.1.64.
Nasir M, Latif A, Ajmal M, Qamar R, Naeem M, Hameed A. Molecular analysis oflipoid proteinosis: identification of a novel nonsense mutation in the ECM1 gene in a Pakistani family. Diagn Pathol. 2011 Jul 26;6:69. doi:10.1186/1746-1596-6-69.
Nasir M, Rahman SB, Sieber CM, Mir A, Latif A, Ahmad N, Malik SA, Hameed A.Identification of recurrent c.742G>T nonsense mutation in ECM1 in Pakistanifamilies suffering from lipoid proteinosis. Mol Biol Rep. 2014;41(4):2085-92.doi: 10.1007/s11033-014-3057-1.
Vahidnezhad H, Youssefian L, Uitto J. Lipoid Proteinosis. 2016 Jan 21. In:Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A,editors. GeneReviews® [Internet]. Seattle (WA): University of Washington,Seattle; 1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK338540/
Youssefian L, Vahidnezhad H, Daneshpazhooh M, Abdollahzadeh S, Talari H,Khoshnevisan A, Chams-Davatchi C, Mobasher R, Li Q, Uitto J, Akhondzadeh S,Tabrizi M. Lipoid proteinosis: phenotypic heterogeneity in Iranian families with c.507delT mutation in ECM1. Exp Dermatol. 2015 Mar;24(3):220-2. doi:10.1111/exd.12620.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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