中国麻风皮肤病杂志 ›› 2023, Vol. 39 ›› Issue (7): 530-532.doi: 10.12144/zgmfskin202307530

• 病例报告 • 上一篇    下一篇

新生儿先天性非大疱性鱼鳞病样红皮病一例

王泽芯,闫爱霞,宋庆   

  1. 航天中心医院儿科，北京，100049
  • 出版日期:2023-07-15 发布日期:2023-07-05

Neonate with nonbullous congenital ichthyosiform erythroderma: a case report

WANG Zexin, YAN Aixia, SONG Qing   

  1. Department of Pediatrics, Aerospace Center Hospital, Beijing 100049, China
  • Online:2023-07-15 Published:2023-07-05

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摘要： 先天性鱼鳞病是一组以皮肤表皮增生、角化过度、脱屑为主要特征的遗传性疾病，是新生儿期罕见疾病，本文报道一例先天性非大疱性鱼鳞病样红皮病。患儿，女，日龄1小时，出生时全身皮肤呈羊皮纸样，眼睑外翻，鼻梁塌陷，耳廓发育不全，口唇外翻。采集血样行全外显子测序，检测到ALOX12B c.1409C>T(p.A470V)及c.2073C>A(p.D691E)基因复合杂合突变，经Sanger测序验证，两个变异分别来自其父亲和母亲。给予保温、保湿、油性软膏外涂、抗生素治疗。

关键词: 新生儿, 先天性非大疱性鱼鳞病样红皮病, ALOX12B基因

Abstract: Congenital ichthyosis is a group of hereditary diseases characterized by epidermal hyperplasia, hyperkeratosis, and desquamate. It is a rare disease in the neonatal period. Herein, we report a case of congenital non-bullous ichthyosis erythroderma. The newborn presented with ectropion of eyelids, collapse of the nasal bridge, auricle hypoplasia and eclabium. Parchment-like skin changes were seen all over the whole body. The compound heterozygotes mutation of ALOX12B c.1409C>T(p.A470V) and c.2073C>A (p.D691E)  were identified by  whole exome sequencin and Sanger sequencing. The baby was given heat preservation, skin hydration, external application of oily ointment and antibiotic treatment.

Key words: neonate, nonbullous congenital ichthyosiform erythroderma, ALOX12B gene