Kartal Demet, Çınar Salih Levent, Kartal Levent, Saka Özge Şeyda, Borlu Murat
Department of Dermatology and Venereology, Erciyes University Faculty of Medicine, Kayseri, Turkey.
Department of Otorhinolaryngology, Kayseri Education and Research Hospital, Kayseri, Turkey.
Acta Dermatovenerol Alp Pannonica Adriat. 2016;25(1):19-21. doi: 10.15570/actaapa.2016.5.
Lipoid proteinosis (LP) is an uncommon, autosomal, recessively inherited disorder. It is typically characterized by hoarseness from early infancy, together with various cutaneous manifestations such as waxy papules, acneiform scarring, and eyelid beading. A 42-year-old woman was admitted to our dermatology outpatient clinic complaining of rigidity of the oral mucosa and limitation in tongue movement. She also had a burning sensation and decreased taste perception in the mouth while eating, as well as hoarseness of voice. She was diagnosed with lipoid proteinosis. The typical cutaneous manifestations of LP include waxy yellow papules with generalized skin thickening on the face, extremities, and trunk. Here we report a case with significant mucosal involvement but less skin involvement.
类脂蛋白沉积症（LP）是一种罕见的常染色体隐性遗传性疾病。其典型特征为自幼出现声音嘶哑，同时伴有多种皮肤表现，如蜡样丘疹、痤疮样瘢痕和眼睑串珠样改变。一名42岁女性因口腔黏膜僵硬和舌运动受限而入住我们皮肤科门诊。她进食时口腔也有烧灼感和味觉减退，以及声音嘶哑。她被诊断为类脂蛋白沉积症。LP的典型皮肤表现包括面部、四肢和躯干出现蜡样黄色丘疹伴全身皮肤增厚。在此我们报告一例黏膜受累明显但皮肤受累较轻的病例。
