Lipoid proteinosis: report of four siblings and brief review of the literature
Affiliations
Affiliations
- Asad' Al-Hamad Dermatology Center, Department of Ear, Nose and Throat, Al-Sabah Hospital, and Faculty of Medicine, Kuwait University, Kuwait. artinanda@hotmail.com
Abstract
Lipoid proteinosis (Urbach-Wiethe disease) is a rare autosomal recessive disorder associated with deposition of periodic acid-Schiff (PAS)-positive hyaline material in various tissues including skin, mucous membranes, and internal organs. A family is reported in which four siblings (two boys and two girls) born to nonconsanguineous parents had lipoid proteinosis. All had the characteristic hoarseness of voice and three had skin lesions. The diagnosis was confirmed by the presence of typical features on light and electron microscopy.
Similar articles
Lipoid proteinosis in two siblings: a report from India.
Sethuraman G, Tejasvi T, Khaitan BK, Handa KK, Rao S, Singh MK, Sirka C, Sharma VK.J Dermatol. 2003 Jul;30(7):562-5. doi: 10.1111/j.1346-8138.2003.tb00434.x.PMID: 12928549
Urbach-Wiethe disease (lipoid proteinosis).
Kucuk U, Erdogan IG, Bayol U, Hacioglu N, Cukurova I, Bicakci C.Indian J Pathol Microbiol. 2012 Jul-Sep;55(3):375-6. doi: 10.4103/0377-4929.101749.PMID: 23032836
[Lipoid proteinosis of Urbach-Wiethe: a case report].
Daldon PE, Baraldi Moreira M, Talarico SR.Dermatol Online J. 2011 Nov 15;17(11):8.PMID: 22136864 Portuguese.
Lipoid Proteinosis: a case report in two siblings.
Ranjan R, Goel K, Sarkar R, Garg VK.Dermatol Online J. 2014 Dec 14;21(3):13030/qt72c3461z.PMID: 25780975 Review.
Hamada T.Clin Exp Dermatol. 2002 Nov;27(8):624-9. doi: 10.1046/j.1365-2230.2002.01143.x.PMID: 12472532 Review.
Cited by
Intra-Familial Variability of Lipoid Proteinosis: An Indian Case Series.
Lohia K, Doshi BR, Chougule NS, Manjunathswamy.Indian J Dermatol. 2021 Sep-Oct;66(5):547-550. doi: 10.4103/ijd.IJD_475_19.PMID: 35068513 Free PMC article. No abstract available.
Zaouak A, Zribi H, Eleuch D, Mokni M.Int J Pediatr Adolesc Med. 2015 Sep-Dec;2(3-4):157-160. doi: 10.1016/j.ijpam.2015.08.003. Epub 2015 Sep 25.PMID: 30805456 Free PMC article.
Mittal HC, Yadav S, Malik S, Singh G.Int J Clin Pediatr Dent. 2016 Apr-Jun;9(2):149-51. doi: 10.5005/jp-journals-10005-1353. Epub 2016 Jun 15.PMID: 27365938 Free PMC article.
Lipoid proteinosis: A review with two case reports.
Kabre V, Rani S, Pai KM, Kamra S.Contemp Clin Dent. 2015 Apr-Jun;6(2):233-6. doi: 10.4103/0976-237X.156053.PMID: 26097361 Free PMC article.
Zhang R, Liu Y, Xue Y, Wang Y, Wang X, Shi S, Cai T, Wang Q.J Transl Med. 2014 Apr 4;12:85. doi: 10.1186/1479-5876-12-85.PMID: 24708644 Free PMC article.