Literature DB >> 19094844

Lipoid proteinosis: report of three siblings.

Soheila Nasiri1, Nima Sarrafi-Rad, Sima Kavand, Marjan Saeedi.   

Abstract

Lipoid proteinosis is a very rare genodermatosis characterized by infiltration of hyaline material into the skin, oral cavity, larynx and internal organs. It usually presents in infancy with hoarseness. Although about 300 cases have been reported in the literature, the occurrence of the disease is rare in siblings. In this report we introduce three siblings with this disease.

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Year:  2008        PMID: 19094844

Source DB:  PubMed          Journal:  Dermatol Online J        ISSN: 1087-2108


  2 in total

1.  Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis.

Authors:  Azam J Samdani; Abid Azhar; Syed M Shahid; Syeda N Nawab; Rozeena Shaikh; Shah A Qader; Qaisar Mansoor; Bahram K Khoso; Muhammad Ismail
Journal:  J Dermatol Case Rep       Date:  2010-12-31

2.  Urbach-wiethe syndrome and the ophthalmologist: review of the literature and introduction of the first instance of bilateral uveitis.

Authors:  Seyed-Mojtaba Abtahi; Farzan Kianersi; Mohammad-Ali Abtahi; Seyed-Hossein Abtahi; Arash Zahed; Hamid-Reza Fesharaki; Zahra-Alsadat Abtahi; Shahzad Baradaran; Mehdi Mazloumi; Saeed Naghiabadi
Journal:  Case Rep Med       Date:  2012-07-31
  2 in total

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