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( Elif Keleş Gülnerman ),( Nurcan Hanedan ),( Merve Akillioglu ),( Gülsüm Kayhan ),( Esra Adişen ),( Özlem Erdem ),( İbrahim Murat Hirfanoğlu ),( Ebru Ergenekon ),( Eray Esra Önal ),( Canan Türkyilmaz 대한피부과학회 2023 Annals of Dermatology Vol.35 No.7
Autosomal recessive congenital ichthyosis (ARCI) is a group of diseases presenting as collodion baby at birth. ARCI is categorized as Harlequin ichthyosis, lamellar ichthyosis, and non-bullous congenital ichthyosiform erythroderma (NBCIE), bathing suit icthyosis (BSI) and others. We describe the case of a male newborn with NBCIE whose whole exome sequencing revealed two variants of TGM1 gene (NM_000359.3) in a compound heterozygous state: c.790C>T (p.Arg264Trp) in exon 5 and c.2060G>A (p.Arg687His) in exon 13. In the literature, the Arg264Trp variant has been reported as homozygous or compound heterozygous with other variants in patients with BSI. In contrast, the Arg687His variant has been reported only as homozygous in patients with BSI. To the best of our knowledge, this is the first case whose two compound heterozygous variants, exhibiting the NBCIE phenotype, instead of the BSI.
Elif Keleş Gülnerman,Nurcan Hanedan,Merve Akillioglu,Gülsüm Kayhan,Esra Adişen,Özlem Erdem,İbrahim Murat Hirfanoğlu,Ebru Ergenekon,Eray Esra Önal,Canan Türkyilmaz,Esin Koç 대한피부과학회 2023 Annals of Dermatology Vol.35 No.-
Autosomal recessive congenital ichthyosis (ARCI) is a group of diseases presenting as col- lodion baby at birth. ARCI is categorized as Harlequin ichthyosis, lamellar ichthyosis, and non-bullous congenital ichthyosiform erythroderma (NBCIE), bathing suit icthyosis (BSI) and others. We describe the case of a male newborn with NBCIE whose whole exome se- quencing revealed two variants of TGM1 gene (NM_000359.3) in a compound heterozygous state: c.790C>T (p.Arg264Trp) in exon 5 and c.2060G>A (p.Arg687His) in exon 13. In the literature, the Arg264Trp variant has been reported as homozygous or compound heterozy- gous with other variants in patients with BSI. In contrast, the Arg687His variant has been reported only as homozygous in patients with BSI. To the best of our knowledge, this is the first case whose two compound heterozygous variants, exhibiting the NBCIE phenotype, instead of the BSI.