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Lipoid proteinosis: a case report from Kurdistan Province in 1390
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Farokh Rad1   , Bahram Nikkhoo2 |
1- Kurdistan University of Medical Sciences , dr-farokh.rad@muk.ac.ir
2- Kurdistan University of Medical Sciences |
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Abstract: (10795 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 |
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| Keywords: Lipoid proteinosis, Hoarseness of voice, Skin lesions, Hyalin deposition |
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Full-Text [PDF 341 kb]
(3877 Downloads)
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Type of Study: Original Research |
Subject:
General
Received: 2012/12/11 | Published: 2012/12/15
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