Severe ichthyosis in MPDU1-CDG

J Inherit Metab Dis. 2018 Nov;41(6):1293-1294. doi: 10.1007/s10545-018-0189-9. Epub 2018 May 2.

Abstract

Congenital disorders of glycosylation (CDG) have a broad spectrum of clinical manifestations. They can affect multiple organ systems, including skin and subcutaneous tissue. We report on an infant with severe ichthyosis caused by MPDU1 mutations. The case illustrates that skin manifestations are an important feature of CDG syndromes. Therefore, metabolic investigations should be included in the workup of infantile ichthyosis disorders.

Publication types

  • Case Reports

MeSH terms

  • Congenital Disorders of Glycosylation / genetics*
  • Exome Sequencing
  • Female
  • Humans
  • Ichthyosis / etiology*
  • Infant
  • Mutation*
  • Repressor Proteins / genetics*
  • Skin / pathology

Substances

  • Repressor Proteins