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:: Volume 10, Issue 2 (summer 2010) ::
J Ardabil Univ Med Sci 2010, 10(2): 175-179 Back to browse issues page
A case report of lipoid proteinosis from Ardabil
Alireza Mohebbi pour , Behrooz Shokuhi
Abstract:   (5702 Views)

  Lipoid proteinosis is a rare autosomal-recessive disturbance characterized by yellowish-white deposits on the inner surface of the lips, under surface of the tongue and uncommonly other surfaces of upper respiratory tract. Changes in larynx lead to degrees of hoarsness which usually appears within the first few weeks of life after initiation of the disease.

  The patient tongue is firm like as wood. In some patients deposits observed on the vocal cords, labia major, scrotum, gluteal folds and axilla. The eyelid margins contain yellowish pearly papules in about 2/3 of patients. Neurologic findings such as epilepsy are rare but pathognomonic. The gene of these disturbances is recognized on 1q21 choromosome. The patient reported here is a 13 years old girl with yellowish pearly papules on the margins of her eyelids and hoarsness. Diagnosis of lipoid proteinosis is confirmed by pathologic findings.

Keywords: Lipoid Proteinosis, Hoarsness
Full-Text [PDF 1248 kb]   (1058 Downloads)    
Type of Study: case report | Subject: Special
Received: 2009/09/2 | Accepted: 2010/08/31 | Published: 2010/10/17
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Mohebbi pour A, Shokuhi B. A case report of lipoid proteinosis from Ardabil. J Ardabil Univ Med Sci. 2010; 10 (2) :175-179
URL: http://jarums.arums.ac.ir/article-1-228-en.html

Volume 10, Issue 2 (summer 2010) Back to browse issues page
مجله دانشگاه علوم پزشکی اردبیل Journal of Ardabil University of Medical Sciences
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