Lipoid proteinosis. A report of 2 siblings and a brief review of the literature.
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.
Al-Natour
Sahar H
SH
Department of Dermatology, King Faisal University, College of Medicine, Dammam, Kingdom of Saudi Arabia. saharnatour@yahoo.com
D000293:Adolescent; D005260:Female; D006801:Humans; D008065:Lipoid Proteinosis of Urbach and Wiethe / Q000235:genetics*; D008297:Male