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Restrictive dermopathy: A lethal congenital skin disorder

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Abstract

Restrictive dermopathy is a recently described lethal congential disorder of the skin with an autosomal recessive mode of inheritance. The rigidity of the skin impairs fetal movements in utero and causes arthrogryposis, as well as highly characteristic facial features and pulmonary hypoplasia. We report two cases of restrictive dermopathy in prematurely born infants, describe the typical pathological findings and discuss this disorder in the context of the fetal akinesia/hypokinesia deformation sequence.

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Abbreviations

RD:

restrictive dermopathy

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Authors and Affiliations

  1. Paediatric Pathology Section, Institute of Pathology, Albertstrasse 19, W-7800, Freiburg, Germany

    R. Hoffmann, M. Lohner & N. Böhm

  2. Children's Hospital, University of Freiburg, Germany

    J. Leititis

  3. Department of Paediatrics, St. Josefskrankenhaus, Freiburg, Germany

    H. Helwig

Authors
  1. R. Hoffmann
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  2. M. Lohner
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  3. N. Böhm
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  4. J. Leititis
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  5. H. Helwig
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Hoffmann, R., Lohner, M., Böhm, N. et al. Restrictive dermopathy: A lethal congenital skin disorder. Eur J Pediatr 152, 95–98 (1993). https://doi.org/10.1007/BF02072481

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  • DOI: https://doi.org/10.1007/BF02072481

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