Autosomal recessive congenital ichthyosis is a heterogeneous group of congenital disorders characterized by aberrant skin cornification and diffuse skin scaling. Some patients with this condition are born encased in a collodion membrane which is later shed, revealing the underlying skin disorder. Self-healing collodion baby (SHCB) is a less common phenotype of this disorder, accounting for about 10% of the patients, in which the membrane peels after several weeks, leaving no underlying skin aberration. Here, we report and discuss the diagnosis and management of an infant with SHCB in Vietnam due to compound heterozygous pathogenic mutations in TGM1.
Keywords: TGM1; autosomal recessive congenital ichthyosis; self-healing congenital ichthyosis; self-improving collodion ichthyosis.
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