Victor Frank, Schaffer Julie V
Department of Dermatology, New York University School of Medicine, USA.
Dermatol Online J. 2005 Dec 30;11(4):13.
A 6-year-old African boy with a history of a collodion membrane presented with scale in a generalized distribution and flexural accentuation. Large, brown, polygonal scales were present on the forehead, lateral aspects of the face, and extremities. The nature of the scales and the lack of erythroderma in this patient are consistent with a mild form of lamellar ichthyosis (LI). LI and nonbullous congenital ichthyosiform erythroderma (NBCIE) represent phenotypes at the poles of the autosomal recessive ichthyosis spectrum. Mutations in genes encoding transglutaminase 1 (TGM1), the ABCA12 transporter (ABCA12), ichthyin, lipoxygenase 3 (ALOXE3), and 12(R)-lipoxygenase (ALOX12B) have been shown to underlie both NBCIE and LI.
一名6岁非洲男孩,有先天性薄痂病史,全身皮肤呈鳞屑样改变,褶皱部位更明显。前额、面部两侧及四肢可见大片褐色多边形鳞屑。该患者鳞屑的特征及无红皮病表现符合轻型板层状鱼鳞病(LI)。LI和非大疱性先天性鱼鳞病样红皮病(NBCIE)代表常染色体隐性鱼鳞病谱系两极的表型。已证实,编码转谷氨酰胺酶1(TGM1)、ATP结合盒转运蛋白A12(ABCA12)、鱼鳞硬蛋白、脂氧合酶3(ALOXE3)和12(R)-脂氧合酶(ALOX12B)的基因突变是NBCIE和LI的发病基础。