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:: Volume 17, Issue 4 (Scientific Journal of Kurdistan University of Medical Sciences 2012) ::
SJKU 2012, 17(4): 86-92 Back to browse issues page
Lipoid proteinosis: a case report from Kurdistan Province in 1390
Farokh Rad Dr 1, Bahram Nikkhoo Dr2
1- Kurdistan University of Medical Sciences , dr-farokh.rad@muk.ac.ir
2- Kurdistan University of Medical Sciences
Abstract:   (7241 Views)
ABSTRACT Background and Aim: Lipoid proteinosis is a rare metabolic autosomal recessive disorder. Clinical manifestations of this disease are attributed to deposition of hyaline material in dermis and other organs which is a consequence of genetic mutations. Hoarseness of voice, beaded papules on the eyelid margins, acneiform scars, waxy papules and warty papules are common clinical manifestations of this disorder. Other manifestations include speech disorder, photosensitivity, recurrent salivary gland inflammation, loss of eyelashes, alopecia of scalp and pruritus. Case report: A 17 year old boy developed hoarseness of voice and mucocutaneous lesions since infancy. Skin lesions included acneiform scars on the face, waxy papules and warty papules on the elbows and buttocks, and also beaded papules on the eyelid margins .The tongue of the patient gradually enlarged and some papules appeared on the tongue and mouth angles. The patient was not able to protrude his tongue out of the mouth. Histopathologic examination revealed deposition of pink amorphous (hyaline) material in the dermis and around skin appendages. Conclusion: Diagnosis of lipoid proteinosis is based on its clinical manifestations and histopathological findings. Once hoarseness of voice in infancy, which is among the most common and earliest manifestations of the disease, is detected, lipoid proteinosis should be considered as an important differential diagnosis. Key words: Lipoid proteinosis, Hoarseness of voice, Skin lesions, Hyalin deposition Received: Feb 28, 2012 Accepted: Jun 16, 2012
Keywords: Lipoid proteinosis, Hoarseness of voice, Skin lesions, Hyalin deposition
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Type of Study: Research | Subject: General
Received: 2012/12/11
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Rad F, Nikkhoo B. Lipoid proteinosis: a case report from Kurdistan Province in 1390. SJKU. 2012; 17 (4) :86-92
URL: http://sjku.muk.ac.ir/article-1-928-en.html


Volume 17, Issue 4 (Scientific Journal of Kurdistan University of Medical Sciences 2012) Back to browse issues page
مجله علمی دانشگاه علوم پزشکی کردستان Scientific Journal of Kurdistan University of Medical Sciences
مجله علمی دانشگاه علوم پزشکی کردستان Scientific Journal of Kurdistan University of Medical Sciences
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