Harlequin ichthyosis--a case report

Abstract

The Harlequin infant represents the most severe form of nonbullous ichthyosis. Although the clinical features of infants with Harlequin ichthyosis are generally similar, histological, ultrastructural, and biochemical analyses have not shown consistent findings. An unexpected case of Harlequin ichthyosis in a female infant born at 35 wks gestation is presented. Light microscopic and ultrastructural investigations of skin biopsies are detailed. The presence of extracellular lipid material in the stratum corneum has not been described in the previously reported cases of Harlequin ichthyosis.