Harting Mandy, Brunetti-Pierri Nicola, Chan C Stanley, Kirby Joslyn, Dishop Megan K, Richard Gabriele, Scaglia Fernando, Yan Albert C, Levy Moise L
Pediatric/Adolescent Dermatology, Specially for Children, 1301 Barbara Jordan Blvd, Ste 200, Austin, TX 78723, USA.
Arch Dermatol. 2008 Mar;144(3):351-6. doi: 10.1001/archderm.144.3.351.
Collodion phenotype is a term applied to the condition affecting a newborn involving a parchmentlike membrane covering the whole body surface (collodion membrane). This presentation is common to several different forms of autosomal recessive congenital ichthyoses, including nonbullous congenital ichthyosiform erythroderma (NCIE), lamellar ichthyosis (LI), and harlequin ichthyosis (HI). Recent years have seen considerable advances in our understanding of the molecular basis of autosomal recessive forms of congenital ichthyosis. Several genetic loci have been identified for LI and NCIE.
We describe the clinical and molecular features of 2 cases of self-healing newborns of collodion phenotype developing mild NCIE. A dramatic improvement of the skin was observed in the first few weeks after birth in both cases. The molecular analysis of the ALOX12B gene demonstrated that both patients were compound heterozygous for previously unreported mutations.
Both patients were compound heterozygous for novel ALOX12B mutations, underscoring the concept that mutations in at least 2 different genes, ALOX12B and TGM1, may result in this unusual clinical phenotype.
火棉胶样婴儿是一个术语，用于描述影响新生儿的一种病症，其全身表面覆盖着一层羊皮纸样膜（火棉胶膜）。这种表现常见于几种不同形式的常染色体隐性先天性鱼鳞病，包括非大疱性先天性鱼鳞病样红皮病（NCIE）、板层状鱼鳞病（LI）和丑角样鱼鳞病（HI）。近年来，我们对常染色体隐性先天性鱼鳞病的分子基础的理解有了显著进展。已确定了几个与LI和NCIE相关的基因位点。
我们描述了2例火棉胶样婴儿表型的自愈新生儿发展为轻度NCIE的临床和分子特征。两例患儿在出生后的头几周皮肤均有显著改善。对ALOX12B基因的分子分析表明，两名患者均为先前未报道的突变的复合杂合子。
两名患者均为新型ALOX12B突变的复合杂合子，这突出了至少2个不同基因（ALOX12B和TGM1）的突变可能导致这种不寻常临床表型的概念。
