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Severe ichthyosis in MPDU1-CDG

  • Images in Metabolic Medicine
  • Published:
Journal of Inherited Metabolic Disease

Abstract

Congenital disorders of glycosylation (CDG) have a broad spectrum of clinical manifestations. They can affect multiple organ systems, including skin and subcutaneous tissue. We report on an infant with severe ichthyosis caused by MPDU1 mutations. The case illustrates that skin manifestations are an important feature of CDG syndromes. Therefore, metabolic investigations should be included in the workup of infantile ichthyosis disorders.

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References

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Authors and Affiliations

  1. Center for Child and Adolescent Medicine, Pediatrics I, University of Heidelberg, Heidelberg, Germany

    Christian Thiel

  2. Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Ismaninger Str. 22, 81675, Munich, Germany

    Saskia Wortmann, Korbinian Riedhammer, Bader Alhaddad & Holger Prokisch

  3. Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstr. 1, 85764, Neuherberg, Germany

    Saskia Wortmann, Bader Alhaddad & Holger Prokisch

  4. Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Ismaninger Str. 22, 81675, Munich, Germany

    Korbinian Riedhammer

  5. Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children’s Hospital Duesseldorf, Medical Faculty, Heinrich Heine University, Moorenstr. 5, 40225, Düsseldorf, Germany

    Ertan Mayatepek & Felix Distelmaier

Authors
  1. Christian Thiel
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  2. Saskia Wortmann
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  3. Korbinian Riedhammer
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  4. Bader Alhaddad
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  5. Ertan Mayatepek
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  6. Holger Prokisch
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  7. Felix Distelmaier
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Corresponding author

Correspondence to Felix Distelmaier.

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Conflict of interest

C. Thiel, S. Wortmann, K. Riedhammer, B. Alhaddad, E. Mayatepek, H. Prokisch and F. Distelmaier declare that they have no conflict of interest.

Additional information

Communicated by: Jaak Jaeken

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Thiel, C., Wortmann, S., Riedhammer, K. et al. Severe ichthyosis in MPDU1-CDG. J Inherit Metab Dis 41, 1293–1294 (2018). https://doi.org/10.1007/s10545-018-0189-9

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  • DOI: https://doi.org/10.1007/s10545-018-0189-9

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