Oezarmağan G, Baykal C, Gürsoy E O, Yilmazer S, Büyükbabani N, Coban O
Dermatologische Abteilung, Medizinischen Fakultät Istanbul.
Hautarzt. 1993 May;44(5):315-8.
Lipoid proteinosis was diagnosed in two daughters of a consanguinous marriage on the basis of genetic, clinical, light microscopic and ultrastructural findings. Hyaline material accumulation, thickening of the basal laminae and the resulting typical onion skin phenomenon were observed. In addition to the pathognomonic cutaneous mucosal findings, unusual manifestations such as persistence of deciduous teeth (in one case), oligodontia and intracerebral calcifications were observed. In one patient, the intracerebral calcifications caused epileptic seizures.
根据遗传学、临床、光镜和超微结构检查结果，在一对近亲结婚夫妇的两个女儿中诊断出类脂蛋白沉积症。观察到透明物质积聚、基底膜增厚以及由此产生的典型洋葱皮现象。除了具有诊断意义的皮肤黏膜表现外，还观察到了一些不寻常的表现，如乳牙滞留（1例）、少牙症和脑内钙化。在1例患者中，脑内钙化引发了癫痫发作。
