• Pathology · Jul 1995

    Case Reports

    Harlequin ichthyosis--a case report.

    • J E Dahlstrom, T McDonald, L Maxwell, and S Jain.
    • Department of Anatomical Pathology, Woden Valley Hospital, Garran, Australian Capital Territory.
    • Pathology. 1995 Jul 1;27(3):289-92.

    AbstractThe 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.

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