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

Reesa L MonirJennifer J Schoch
Published in: Pediatric dermatology (2023)
A 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.
Keyphrases
  • early onset
  • genome wide
  • copy number
  • spinal cord injury
  • gene expression
  • intellectual disability
  • autism spectrum disorder
  • low grade
  • case report
  • botulinum toxin