Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype.

Pálma Anker,Balázs Mayer,Éva Czemmel,Nikoletta Nagy,Dóra Plázár,Márta Medvecz,Norbert Kiss,Krisztina Becker,Sára Zakariás,Zsuzsanna Szalai,Nándor Ács,Klára Farkas,István Kocsis,Márta Széll

doi:10.3390/life11070624

Pálma Anker, Balázs Mayer + Show 12 more

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https://doi.org/10.3390/life11070624

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Abstract

Collodion baby is a congenital, transient phenotype encountered in approximately 70–90% of autosomal recessive congenital ichthyosis and is an important entity of neonatal erythroderma. The clinical outcome after this severe condition is variable. Genetic mutations of components of the epidermal lipoxygenase pathway have been implicated in the majority of self-improving collodion ichthyosis (SICI). In SICI, the shedding of the collodion membrane reveals clear skin or only mild residual manifestation of ichthyosis. Here we report the case of a girl born with a severe form of collodion baby phenotype, whose skin almost completely cleared within the first month of life. At the age of 3 years, only mild symptoms of a keratinization disorder remained. However, the severity of erythema and scaling showed mild fluctuations over time. To objectively evaluate the skin changes of the patient, we assessed the ichthyosis severity index. Upon sequencing of the ALOX12B gene, we identified a previously unreported heterozygous nonsense mutation, c.1607G>A (p.Trp536Ter) with the recurrent, heterozygous mutation c.1562A>G (p.Tyr521Cys). Thereby, our findings expand the genotypic spectrum of SICI. In addition, we summarize the spectrum of further genetic diseases that can present at birth as collodion baby, in particular the SICI.

Highlights

Genomic DNA was isolated from peripheral blood leukocytes of the patient and her parents with a Roche MagNA Pure Compact system (Roche Diagnostics, Mannheim, Germany) or with a BioRobot EZ1 DSP Workstation (QIAGEN; Hilden, Germany), for TGM1 or ALOX12B and ALOXE3, respectively
We report the case of a three-year-old girl, who was born to non-consanguineous parents at 37 gestational weeks following an uncomplicated pregnancy, through a normal vaginal delivery as a collodion baby (CB)
We report the case of a three-year-old girl, who was born to non-cons ous parents at 37 gestational weeks following an uncomplicated pregnancy, th normal vaginal delivery as a CB

Summary

Introduction

Autosomal recessive congenital ichthyosis (ARCI) is a major subgroup of the nonsyndromic forms of congenital ichthyosis characterized by abnormal skin cornification with hyperkeratosis, diffuse scaling and variable degree of erythroderma. Self-Improving Collodion Ichthyosis with an Overview of the Genetic. Collodion baby is a congenital, transient phenotype encountered in approximately 70–90%. Genetic mutations of components of the epidermal lipoxygenase pathway have been implicated in the majority of self-improving collodion ichthyosis (SICI). In SICI, the shedding of the collodion membrane reveals clear skin or only mild residual manifestation of ichthyosis. We report the case of a girl born with a severe form of collodion baby phenotype, whose skin almost completely cleared within the first month of life. We summarize the spectrum of further genetic diseases that can present at birth as collodion baby, in particular the SICI

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