title: Skin manifestations in CDG.
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.
authors.affiliation: Center for Human Genetics, University of Leuven, Leuven, Belgium, daisy.rymen@uzleuven.be.
authors.forename: D
authors.initials: D
authors.lastname: Rymen
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
mesh_terms: D018981:Congenital Disorders of Glycosylation / Q000150:complications* / Q000473:pathology; D006801:Humans; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000209:etiology* / Q000473:pathology