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Skin manifestations in CDG

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Journal of Inherited Metabolic Disease

Abstract

The group of congenital disorders of glycosylation (CDG) has expanded tremendously since its first description in 1980, with around 70 distinct disorders described to date. A great phenotypic variability exists, ranging from multisystem disease to single organ involvement. Skin manifestations, although inconsistently present, are part of this broad clinical spectrum. Indeed, the presence of inverted nipples, fat pads and orange peel skin in a patient with developmental delay are considered as a hallmark of CDG, particularly seen in PMM2 deficiency. However, over the years many more dermatological findings have been observed (e.g., ichthyosis, cutis laxa, tumoral calcinosis…). In this review we will discuss the variety of skin manifestations reported in CDG. Moreover, we will explore the possible mechanisms that link a certain glycosylation deficiency to its skin phenotype.

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Acknowledgements

This work was funded by grants from the Research Foundation (FWO) Flanders (G.0553.08 and G.0505.12) and by grant ERARE11-135 of the ERA-Net for Research Programs on Rare Diseases Joint Transnational Call 2011 (EURO-CDG). Daisy Rymen is research assistant of the FWO.

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Authors and Affiliations

  1. Center for Human Genetics, University of Leuven, Leuven, Belgium

    D. Rymen

  2. Center for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium

    D. Rymen & J. Jaeken

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  1. D. Rymen
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  2. J. Jaeken
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Correspondence to J. Jaeken.

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Communicated by: Eva Morava

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Rymen, D., Jaeken, J. Skin manifestations in CDG. J Inherit Metab Dis 37, 699–708 (2014). https://doi.org/10.1007/s10545-014-9678-7

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  • DOI: https://doi.org/10.1007/s10545-014-9678-7

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