28 July 2008
Lipoid proteinosis-report of three cases and brief review of the literature
Salim Dogru, Atila Gungor, Zafer Küçükodaci, Ali Aydin, Mehmet Guney Senol, Ozlem Karabudak, Hakan Cincik, Mustafa Gunes, Murat SalihogluAm J Case Rep 2008; 9:346-350 :: ID: 865358
Abstract
Background: Lipoid proteinosis (LP), is a rare autosomal recessive disorder characterized by a diffuse deposition of hyaline material and lipids in the mucosa and dermis. Typical clinical features include skin scarring, beaded eyelid papules, and laryngeal infi ltration leading to hoarseness.
Case Report: In this report, we describe three lipoid proteinosis cases with charasteristic lesions with varying degrees. There was a single parietal lobe calcification on cranial computed tomography of one patient. Histopathological examination of oral biopsy specimens showed submucosal deposits of periodic
acid Schiff-positive, diastase resistant hyaline material corroborating the clinical diagnosis of lipoid proteinosis.
Conclusions: The disease is important to otolaryngologists as it should be included in the differential diagnosis of voice changes and hoarseness in young patients. This is the first report because of the presence of the parietal lobe calcification in a LP patient.
Keywords: lipoid proteinosis, hyaline material, Macroglossia, Hoarseness
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