Chao Kevin, Aleshin Maria, Goldstein Zachary, Worswick Scott, Hogeling Marcia
Department of Medicine, Division of Dermatology, David Geffen School of Medicine at UCLA, Los Angeles, California.
Dermatol Online J. 2018 Feb 15;24(2):13030/qt24g7w9t8.
The term, autosomal recessive congenital ichthyosis (ARCI), describes a group of rare genetic skin diseases of cornification involving hyperkeratotic scaling at birth. The defective skin barrier function may lead to dehydration, body temperature instability, and high susceptibility to infections. In most cases of ARCI, neonates are born with a collodion membrane covering the body, often presenting with ectropion and eclabium. We report a premature female neonate presenting with hyperkeratotic scaling at birth without a collodion membrane. She was managed with placement in a humidified isolette, prophylactic antibiotics, dilute bleach baths, petrolatum ointment, and artificial eye drops. By the fourth week of life, there was marked improvement in her skin with the large, brown, plate-like scales on the trunk and extremities becoming lighter in color and finer in appearance. The ichthyosis genetic panel showed mutations in the ABCA12 gene resulting in the lamellar ichthyosis phenotype of ARCI. Our literature review revealed at least 28 patients with ARCI who were not born as collodion babies. Although collodion babies are a hallmark of most ARCI cases, clinicians should be aware of neonates with ARCI born without a collodion membrane and expedite appropriate workup and treatment.
常染色体隐性先天性鱼鳞病（ARCI）这一术语描述了一组罕见的遗传性角化皮肤病，出生时即有角化过度性鳞屑。有缺陷的皮肤屏障功能可能导致脱水、体温不稳定以及对感染的高度易感性。在大多数ARCI病例中，新生儿出生时体表覆盖有一层薄羊皮纸样膜，常伴有睑外翻和唇外翻。我们报告了一名早产女婴，出生时即有角化过度性鳞屑，但无薄羊皮纸样膜。对她的处理措施包括置于加湿暖箱中、预防性使用抗生素、稀释漂白剂浴、凡士林软膏以及人工滴眼液。到出生后第四周，她的皮肤有了明显改善，躯干和四肢上大的褐色板状鳞屑颜色变浅，外观变细。鱼鳞病基因检测显示ABCA12基因发生突变，导致了ARCI的板层状鱼鳞病表型。我们的文献综述发现至少有28例ARCI患者出生时并非薄羊皮纸样婴儿。尽管薄羊皮纸样婴儿是大多数ARCI病例的一个标志，但临床医生应意识到有ARCI新生儿出生时无薄羊皮纸样膜，并应加快进行适当的检查和治疗。
