Niemi K M, Kuokkanen K, Kanerva L, Ignatius J
Department of Dermatology, Helsinki University Central Hospital, Finland.
Am J Dermatopathol. 1993 Jun;15(3):224-8. doi: 10.1097/00000372-199306000-00005.
Two patients suffering from ichthyosis with unusual ultrastructural features were examined. One was a 14-year-old boy with ichthyotic skin since birth. The ichthyosis was initially erythrodermic and later presented as follicular hyperkeratosis. The other patient was an ichthyotic child who died 2 days after birth of respiratory distress syndrome. Although apparently not consanguineous, both families came from the same relatively isolated rural area and autosomal recessive inheritance seems likely. Light microscopy did not yield diagnostic features, but the ultrastructural findings in the granular and horny cells showed diagnostic lamellar membrane packages. Identical ultrastructural features have previously been published in one prematurely born baby who died soon after birth and once in a prenatal diagnosis in the same family; the disease was termed "ichthyosis congenita type IV".
对两名患有具有异常超微结构特征鱼鳞病的患者进行了检查。一名是自出生就患有鱼鳞病的14岁男孩。鱼鳞病最初为红皮病型，后来表现为毛囊性角化过度。另一名患者是一名患鱼鳞病的儿童，出生后2天死于呼吸窘迫综合征。虽然两个家庭显然没有血缘关系，但都来自同一个相对孤立的农村地区，似乎很可能是常染色体隐性遗传。光学显微镜检查未发现诊断性特征，但颗粒细胞和角质形成细胞的超微结构发现显示出诊断性板层膜包裹体。相同的超微结构特征此前曾在一名出生后不久死亡的早产婴儿以及同一家族的一次产前诊断中报道过；该疾病被称为“IV型先天性鱼鳞病”。
