Ichthyosis prematurity syndrome: a well-defined congenital ichthyosis subtype

J Am Acad Dermatol. 2008 Nov;59(5 Suppl):S71-4. doi: 10.1016/j.jaad.2008.06.014.

Abstract

Ichthyosis prematurity syndrome is a rare syndrome characterized by the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. We describe two siblings with ichthyosis prematurity syndrome. The index patient was born at gestational week 34. Immediately after birth he developed respiratory distress and needed intubation. Remarkable skin changes were noticed with universal red, edematous and desquamating, spongy skin giving an impression of excessive vernix caseosa. Marked regression of the edema and ichthyotic scaling was observed within a few weeks. The parents recalled that his elder sister had similar but milder skin changes and respiratory distress syndrome at birth. Ichthyosis prematurity syndrome was suggested and the diagnosis supported by electron microscopy of a skin biopsy specimen showing pathognomonic trilamellar membrane aggregations in the stratum corneum and stratum granulosum. Diagnosing this syndrome is important to reassure parents, obstetricians, and pediatricians about its benign course after complications in the perinatal period.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Diseases in Twins / pathology
  • Female
  • Humans
  • Ichthyosis* / complications
  • Ichthyosis* / pathology
  • Infant, Newborn
  • Infant, Premature, Diseases* / pathology
  • Male
  • Pregnancy
  • Respiratory Distress Syndrome, Newborn / etiology
  • Syndrome