Literature DB >> 18690317

Lipoid proteinosis. A report of 2 siblings and a brief review of the literature.

Sahar H Al-Natour1.   

Abstract

Lipoid proteinosis is a rare autosomal recessive inherited metabolic disorder characterized by deposition of a hyaline-like material in the skin, oral laryngeal mucosa, and in other sites. In this report, the author describes 2 Saudi siblings who had characteristic skin findings, oral and mucosal lesions, histological findings along with few rarely encountered manifestations including pathognomonic calcifications in the hippocampus, electroencephalogram findings and briefly reviews the literature. These cases are presented to emphasize the occurrence of this condition in Saudi Arabia, and to update information on the latest developments of this disorder.

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Year:  2008        PMID: 18690317

Source DB:  PubMed          Journal:  Saudi Med J        ISSN: 0379-5284            Impact factor:   1.484


  2 in total

1.  Environment-directed activation of the Escherichia coliflhDC operon by transposons.

Authors:  Zhongge Zhang; Chika Kukita; M Zafri Humayun; Milton H Saier
Journal:  Microbiology       Date:  2017-04-12       Impact factor: 2.777

2.  Lipoid proteinosis: a rare encounter in dental office.

Authors:  Prasannasrinivas Deshpande; Mahima Veeranna Guledgud; Karthikeya Patil; Usha Hegde; Ankita Sahni; Sreeshlya Huchanahalli Sheshanna
Journal:  Case Rep Dent       Date:  2015-03-19
  2 in total

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