Literature DB >> 22847055

Harlequin ichthyosis: A medico legal case report & review of literature with peculiar findings in autopsy.

Uday Bhaskar Reddy Jilumudi1.   

Abstract

Ichthyosis fetalis or Harlequin ichthyosis is an extremely severe and fatal hereditary skin disorder with an autosomal recessive inheritance. It is distinctive because of its remarkable clinical appearance which includes epidermal keratinization, hypoplasia of fingers or nails, malformation of ear and nose and incompatibility with life. This report describes a case of Harlequin ichthyosis along with detailed autopsy findings, which manifested the suspended animation in the early hours after delivery and showing a peculiar malformation of the cerebral hemispheres. To the best of the knowledge, this may be the first report of Harlequin ichthyosis in the forensic literature describing mal development of cerebral hemispheres and suspended animation in a case of Harlequin Ichthyosis.
Copyright © 2012 Elsevier Ltd and Faculty of Forensic and Legal Medicine. All rights reserved.

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Year:  2012        PMID: 22847055     DOI: 10.1016/j.jflm.2012.02.019

Source DB:  PubMed          Journal:  J Forensic Leg Med        ISSN: 1752-928X            Impact factor:   1.614


  2 in total

1.  Harlequin ichthyosis: A rare case.

Authors:  Belide Shruthi; B R Nilgar; Anita Dalal; Nehaben Limbani
Journal:  Turk J Obstet Gynecol       Date:  2017-06-15

Review 2.  Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review.

Authors:  Yi Zhou; Liang Li; Ling Wang; Chaoxue Zhang
Journal:  BMC Med Imaging       Date:  2021-03-21       Impact factor: 1.930

  2 in total

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