Wrinkled skin and fat pads in patients with ALG8-CDG: Revisiting skin manifestations in congenital disorders of glycosylation

Dorus Kouwenberg, Thatjana Gardeitchik, Miski Mohamed, Dirk J. Lefeber, Eva Morava-Kozicz

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Glycosylation is the posttranslational coupling of sugar chains to proteins or lipids. Proper glycosylation is essential for normal protein structure, function, and trafficking. Mutations in the glycosylation pathway lead to a phenotypically heterogeneous group of metabolic disorders, the congenital disorders of glycosylation (CDG). Some of these conditions, including PMM2-CDG, frequently present with recognizable skin abnormalities such as abnormal fat distribution, skin wrinkling, or peau d'orange, whereas others, such as COG7-CDG and ATP6V0A2-CDG, have been described in association with cutis laxa: wrinkled, inelastic, and sagging skin. Ichthyosis is also common in several types of CDG. ALG8-CDG is a severe disorder characterized by dysmorphic features, failure to thrive, protein-losing enteropathy, neurologic and ophthalmologic problems, and developmental delay. We reviewed the clinical features in all nine previously reported patients diagnosed with ALG8-CDG with a special focus on their skin signs. Three of the nine patients had abnormal fat distribution and skin wrinkling. As the spectrum of CDG presenting with skin signs expands further, we suggest screening for CDG in all patients presenting with any type of central nervous involvement and wrinkled skin, cutis laxa, severe ichthyosis, or abnormal fat distribution.

Original languageEnglish (US)
JournalPediatric Dermatology
Volume31
Issue number1
DOIs
StatePublished - Jan 1 2014
Externally publishedYes

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Congenital Disorders of Glycosylation
Skin Manifestations
Adipose Tissue
Skin
Cutis Laxa
Glycosylation
Ichthyosis
Skin Aging
Fats
Skin Abnormalities
Protein-Losing Enteropathies
Failure to Thrive
Nervous System
Proteins
Lipids
Mutation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

Cite this

Wrinkled skin and fat pads in patients with ALG8-CDG : Revisiting skin manifestations in congenital disorders of glycosylation. / Kouwenberg, Dorus; Gardeitchik, Thatjana; Mohamed, Miski; Lefeber, Dirk J.; Morava-Kozicz, Eva.

In: Pediatric Dermatology, Vol. 31, No. 1, 01.01.2014.

Research output: Contribution to journalArticle

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