Lipoid Proteinosis: Case Report and Review Literature
Abstract
Lipoid proteinosis is a rare autosomal recessive deposition disorder due to mutation in the extracellular matrix protein 1 gene. Until now, there were only 300 cases reported in literature. Moreover, case reports in Thailand are limited. This report demonstrated a case of lipoid proteinosis in a 14-year-old Thai girl, who presented with hoarseness of voice since infancy. Skin examination revealed multiple beaded skin-color papules along eyelid margins, hyperkeratotic papules on both elbows and thickening of her sublingual frenulum. Microscopic examination demonstrated deposition of hyaline material in her skin and mucous membrane. From literature review, some patients had complications from upper respiratory tract infiltration which led to early mortality. It is important to recognize this disease in a patient that presents with hoarseness for early diagnosis, treatment and prevention of complications.
Keywords: Lipoid proteinosis, hoarseness, moniliform blepharosis
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