Acral collodion membrane associated with ichthyosis due to a heterozygous pathogenic variant of ELOVL4 gene

Abstract

AbstractA female twin presented at birth with a collodion membrane on the hands and feet. After the membrane resolved over the first months of life, she was initially diagnosed with acral self‐healing collodion membrane. However, she subsequently developed brown well‐defined geometric scales on the trunk and extremities, consistent with ichthyosis. Genetic testing showed a heterozygous pathogenic variant in ELOVL4, a gene associated with syndromic ichthyosis with developmental delay, seizures, and spasticity. Although acral collodion membrane is considered to be a benign variant of the more generalized collodion, usually described as “self‐healing,” it may be the initial presentation of more diffuse ichthyosis.