Williams M L, Elias P M
J Clin Invest. 1984 Jul;74(1):296-300. doi: 10.1172/JCI111415.
Previously considered to represent a single genetic disorder, autosomal recessive ichthyosis was examined in clinical and lipid biochemical studies of 18 patients with this condition and instead disclosed to be two distinct diseases. Six patients displayed clinical features of classical lamellar ichthyosis (LI), which is characterized by monomorphous features, including large, dark, platelike scales, severe ectropion, and a uniformly severe, unremitting course. 11 patients displayed clinical features of nonbullous congenital ichthyosiform erythroderma (CIE) characterized by fine white scales, prominent erythroderma, a milder course, and a variable prognosis. CIE could be separated biochemically from LI by the invariable presence of elevated quantities of n-alkanes in scale (CIE, 24.8 +/- 1.9% vs. LI, 7.2 +/- 1.6%, and normal, 6.5 +/- 0.9%), which suggested a primary disorder in neutral lipid metabolism. In light of the distinctive clinical features of each, these biochemical studies indicate that autosomal recessive ichthyosis comprises two distinct disorders.
常染色体隐性鱼鳞病以前被认为是一种单一的遗传疾病，对18例患有这种疾病的患者进行了临床和脂质生化研究，结果发现它是两种不同的疾病。6例患者表现出经典板层状鱼鳞病（LI）的临床特征，其特征为单一形态，包括大的、深色的、板状鳞屑、严重的睑外翻以及一致严重、持续的病程。11例患者表现出非大疱性先天性鱼鳞病样红皮病（CIE）的临床特征，其特征为细小的白色鳞屑、明显的红皮病、病程较轻且预后不一。CIE在生化方面可通过鳞屑中始终存在大量正构烷烃与LI区分开来（CIE为24.8±1.9%，LI为7.2±1.6%，正常为6.5±0.9%），这表明中性脂质代谢存在原发性紊乱。鉴于每种疾病独特的临床特征，这些生化研究表明常染色体隐性鱼鳞病包括两种不同的疾病。
