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

Life

Zsuzsanna Szalai¹  Norbert Kiss²  Dóra Plázár²  Balázs Mayer²  Krisztina Becker²  Klára Farkas²  Márta Medvecz²  Sára Zakariás²  Pálma Anker²  Nándor Ács³  Éva Czemmel³  István Kocsis³  Nikoletta Nagy⁴  Márta Széll⁴ 

[1] Department of Dermatology, Heim Pál National Children’s Institute, 1089 Budapest, Hungary;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;

关键词: self-improving collodion ichthyosis;    collodion baby;    collodion membrane;    ALOX12B;    mutation;    genodermatosis;   

DOI  :  10.3390/life11070624

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown