Skin manifestations in CDG.

Area of Science:

• Biochemistry
• Genetics
• Dermatology

Background:

• Congenital disorders of glycosylation (CDG) are a rapidly expanding group of genetic conditions.
• CDG exhibit significant phenotypic variability, affecting multiple organ systems or isolated organs.
• Skin manifestations are inconsistently observed but form a notable part of the CDG clinical spectrum.

Purpose of the Study:

• To review the diverse range of skin manifestations reported in patients with CDG.
• To explore the potential pathophysiological links between specific glycosylation defects and observed dermatological phenotypes.

Main Methods:

• Literature review of reported skin findings in CDG.
• Analysis of existing studies on CDG pathophysiology and clinical presentation.

Main Results:

• Key dermatological signs include inverted nipples, fat pads, and orange peel skin, particularly in PMM2-CDG.
• Other observed skin conditions include ichthyosis, cutis laxa, and tumoral calcinosis.
• The review consolidates a wide array of dermatological manifestations associated with various CDG types.

Conclusions:

• Skin manifestations are a significant, albeit variable, feature across the spectrum of CDG.
• Understanding the link between glycosylation defects and skin phenotypes is crucial for diagnosis and management.
• Further research into the molecular mechanisms is needed to elucidate the precise genotype-phenotype correlations in CDG-related dermatopathies.