A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report

Autosomal recessive congenital ichthyosis is a group of skin disorders characterized by abnormal keratinization. The collodion baby phenotype is a rare phenotype of autosomal recessive congenital ichthyosis characterized by a tight, translucent membrane that encases the newborn, which leads to significant medical challenges. This case report describes a male infant born at 35 weeks and 6 days of gestation who presented with the collodion baby syndrome. The present case exhibited a nonbullous congenital ichthyosiform erythroderma-like phenotype, characterized by diffuse erythema and fine scaling. Genetic analysis revealed two compound heterozygous mutations in TGM1: c.425G>T (p.Arg142Leu) in exon 3, previously reported as a pathogenic hotspot in nonbullous congenital ichthyosiform erythroderma, and a novel mutation, c.1198A>C (p.Asn400His) in exon 8, which has not only been associated with lamellar ichthyosis but has also been detected in nonbullous congenital ichthyosiform erythroderma. A comprehensive treatment strategy focused on symptom alleviation and supportive care led to significant improvement, and the infant was discharged after 6 days of hospitalization. This case highlights the importance of early diagnosis, multidisciplinary care, and genetic testing in managing autosomal recessive congenital ichthyosis. The identification of novel TGM1 mutations contributes to the expanding mutation spectrum and may inform future diagnostic and therapeutic approaches.