Harlequin ichthyosis with epidermal lipid abnormality

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Abstract
An infant with phenotypic harlequin ichthyosis survived for 9 mo., then died a crib death. At autopsy, an enlarged but structurally normal thymus was found. Light microscopically, the epidermis showed massive hyperkeratosis and variable parakeratosis, and a stain for neutral fat was positive in the upper epidermis and stratum corneum. EM disclosed crystals resembling cholesterol and masses of autophagic vacuoles, many glutted with lipid, deposited within cells of the stratum corneum. Cholesterol and triglyceride levels in the stratum corneum were sharply elevated (19.8 and 32.0 mg/g of dry wt, respectively). A defect in epidermal lipid metabolism is postulated.

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