Summary
We report a case of harlequin fetus. This very rare cutaneous malformation is a severe form of congenital ichthyosis. This disorder is due to an inborn error of epidermal keratinization. Malformations of ears, nose, and hypoplasia of fingers or nails are seen. This affection is most often lethal.
Résumé
Nous rapportons un cas de fœtus arlequin. Cette malformation cutanée, très rare, est une forme sévère d'ichtyose congénitale. Cette maladie est due à un trouble congénital de la kératinisation de l'épiderme. Des malformations des oreilles, du nez, une hypoplasie des doigts et des ongles sont par ailleurs retrouvées. Cette affection est le plus souvent léthale.
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Moreau, S., Salame, E., Goullet de Rugy, M. et al. Harlequin fetus: a case report. Surg Radiol Anat 21, 215–216 (1999). https://doi.org/10.1007/BF01630905
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DOI: https://doi.org/10.1007/BF01630905