Traupe H, Kolde G, Happle R
Clin Genet. 1984 Nov;26(5):457-61. doi: 10.1111/j.1399-0004.1984.tb01089.x.
Lamellar ichthyosis (nonbullous congenital ichthyosis) has been explained as an autosomal recessive trait. We have found an autosomal dominant type of this disorder. Four patients, belonging to three consecutive generations of a family, were affected from birth. The disorder was characterized by large, dark brown scales covering the entire body including flexural folds, palms and soles. X-linked recessive ichthyosis was excluded by clinical appearance, pattern of transmission and normal electrophoretic mobility of beta-lipoproteins. Autosomal dominant ichthyosis vulgaris and bullous ichthyosiform erythroderma were excluded by the histological and ultrastructural features. In the absence of a positive family history, this skin disorder would have been taken for autosomal recessive lamellar ichthyosis. This new autosomal dominant type of ichthyosis should be considered for differential diagnosis, when genetic counselling is given in a sporadic case of lamellar ichthyosis.
板层状鱼鳞病（非大疱性先天性鱼鳞病）一直被解释为常染色体隐性性状。我们发现了这种疾病的常染色体显性类型。一个家族连续三代中的四名患者自出生起就患病。该疾病的特征是大片深褐色鳞屑覆盖全身，包括屈侧褶皱、手掌和足底。通过临床表现、遗传方式及β-脂蛋白正常电泳迁移率排除了X连锁隐性鱼鳞病。通过组织学和超微结构特征排除了常染色体显性寻常型鱼鳞病和大疱性鱼鳞病样红皮病。在没有阳性家族史的情况下，这种皮肤疾病会被误诊为常染色体隐性板层状鱼鳞病。在对散发性板层状鱼鳞病病例进行遗传咨询时，应考虑这种新的常染色体显性鱼鳞病类型以进行鉴别诊断。
