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

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

doi:10.3390/life11070624

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

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Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1085 Budapest, Hungary

Department of Obstetrics and Gynaecology, Semmelweis University, 1082 Budapest, Hungary

MTA-SZTE Dermatological Research Group, 6720 Szeged, Hungary

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Department of Medical Genetics, University of Szeged, 6720 Szeged, Hungary

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Department of Dermatology, Heim Pál National Children’s Institute, 1089 Budapest, Hungary

Author to whom correspondence should be addressed.

Academic Editors: Joanna Narbutt, Malgorzata Skibinska, Adam Reich and Aleksandra Lesiak

Life 2021, 11(7), 624; https://doi.org/10.3390/life11070624

Received: 10 June 2021 / Revised: 22 June 2021 / Accepted: 24 June 2021 / Published: 27 June 2021

(This article belongs to the Special Issue Frontiers of Dermatological Research)

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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. View Full-Text

Keywords: self-improving collodion ichthyosis; collodion baby; collodion membrane; ALOX12B; mutation; genodermatosis; disorder of cornification; genotype; autosomal recessive congenital ichthyosis

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MDPI and ACS Style

Anker, P.; Kiss, N.; Kocsis, I.; Czemmel, É.; Becker, K.; Zakariás, S.; Plázár, D.; Farkas, K.; Mayer, B.; Nagy, N.; Széll, M.; Ács, N.; Szalai, Z.; Medvecz, M. Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype. Life 2021, 11, 624. https://doi.org/10.3390/life11070624

AMA Style

Anker P, Kiss N, Kocsis I, Czemmel É, Becker K, Zakariás S, Plázár D, Farkas K, Mayer B, Nagy N, Széll M, Ács N, Szalai Z, Medvecz M. Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype. Life. 2021; 11(7):624. https://doi.org/10.3390/life11070624

Chicago/Turabian Style

Anker, Pálma, Norbert Kiss, István Kocsis, Éva Czemmel, Krisztina Becker, Sára Zakariás, Dóra Plázár, Klára Farkas, Balázs Mayer, Nikoletta Nagy, Márta Széll, Nándor Ács, Zsuzsanna Szalai, and Márta Medvecz. 2021. "Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype" Life 11, no. 7: 624. https://doi.org/10.3390/life11070624

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

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