Ehsani Amir H, Ghiasi Maryam, Robati Reza Mahmoud
Tehran University of Medical sciences, Razi Hospital, Tehran, Iran.
Dermatol Online J. 2006 Jan 27;12(1):16.
Lipoid proteinosis is a rare autosomal recessive disorder; it presents in early childhood with hoarseness, skin infiltration and thickening with beaded papules on eyelid margins, and facial acneiform or pock-like scars. Although 250 cases have been reported until now, the occurrence of disease in siblings is very rare. We report three familial cases of lipoid proteinosis involving a brother and sister and their nephew.
类脂蛋白沉积症是一种罕见的常染色体隐性疾病;它在儿童早期出现,表现为声音嘶哑、皮肤浸润和增厚,眼睑边缘有串珠状丘疹,以及面部痤疮样或痘疮样瘢痕。尽管迄今为止已报道了250例病例,但兄弟姐妹中发病的情况非常罕见。我们报告了3例类脂蛋白沉积症的家族病例,涉及一对兄妹及其侄子。