Harlequin Ichthyosis: Neonatal Management and Identification of a New ABCA12 Mutation

被引：10

作者：

Koochek, Arash ^{[1
]}

Choate, Keith A. ^{[1
]}

Milstone, Leonard M. ^{[1
]}

机构：

[1] Yale Univ, Sch Med, Dept Dermatol, New Haven, CT 06520 USA

来源：

PEDIATRIC DERMATOLOGY | 2014年 / 31卷 / 02期

关键词：

IMPROVEMENT;

D O I：

10.1111/pde.12263

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

A case of harlequin ichthyosis with compound heterozygous mutations in ABCA12 was successfully managed with intensive neonatal care and endotracheal intubation and without oral retinoids. The individual's appearance improved dramatically during hospitalization and at discharge resembled congenital ichthyosiform erythroderma.

引用

页码：E63 / E64

页数：2

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