Lipoid proteinosis presenting general clinical features = Lipoid proteinosis presenting general clinical features

다국어 초록 (Multilingual Abstract)

The lipoid proteinoisis is rare autosomal recessive genetic disorder that is characterized by the deposition of hyaline material in the skin, mucous membranes, the brain and many other internal organs. Though the pathogenesis of the lipoid proteinosis is unclear, it is believed that the defects in collagen synthesis and metabolism may lead to abnormal accumulation of non-collagenous glycoprotein. This disease presents a variety of clinical features such as hoarse voice, thickened sublingual frenulum, beaded eyelid papules, warty papules of the skin around the elbow and extensor forearms and mild alopecia. Computed tomographic (CT) scans of the brain reveal bilateral anterior medial temporal lobe calcifications in 50%-75% of lipoid proteinosis patients A 13-year-old male presented with asymptomatic, multiple, tiny bead-shaped papules on both upper eyelashes for 7 years. The patient also showed thickened sublingual frenulum, warty papules of the skin around the elbows and extensor forearms, a hoarse voice and mild alopecia. There was no abnormality except beaded eyelid papules on ophthalmologic examination. Neurological examination including CT scan showed no abnormal findings. A skin biopsy was performed on beaded eyelid papules. The histopathological findings showed deposition of amorphous eosinophilic material in subepithelial stroma. Hence, the patient was finally diagnosed as lipoid proteinosis.