Lipoid proteinosis: A case report with recurrent parotitis and intracranial calcifications

  • Al-Ekrish, Asma’a
  • Al-Sadhan, Ra’ed
Publication date
January 2012
Publisher
Production and hosting by Elsevier B.V.

Abstract

AbstractLipoid proteinosis is an autosomal recessive disease of abnormal deposition of glycoprotein in various tissues. Symptoms may include a hoarse voice, lesions and scarring on the skin, easily damaged skin with poor wound healing, dry, wrinkly skin, and beading of the papules around the eyelids. Calcifications of brain tissue can lead to epilepsy and neuropsychiatric abnormalities. In this paper we will review the current literature on the disease and report a case of a 15year old Saudi female with lipoid proteinosis that presented initially with recurrent parotitis

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