ArticleThe Journal of international medical research2025
A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report.
Article in The Journal of international medical research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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
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