Een neonaat met een strakke huid

Ned Tijdschr Geneeskd. 2016:160:D190.
[Article in Dutch]

Abstract

A newborn had a tight, dry skin with multiple fissures, an eclabium and ectropion. Breathing was compromised and regulation of body temperature was impaired. We described the patient as a 'collodion baby'. After genetic investigation the diagnosis congenital ichtyosis, recessive type 1 was made. At 12 months of age, the skin symptoms were significantly diminished.

Publication types

  • Case Reports

MeSH terms

  • Ectropion / congenital
  • Ectropion / diagnosis*
  • Ectropion / genetics
  • Humans
  • Ichthyosis, Lamellar / diagnosis*
  • Ichthyosis, Lamellar / genetics
  • Infant, Newborn
  • Male