Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic Variants in Two Patients

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2019 Oct 2

PMID 31569816

Citations 7

Authors

Chloe Angwin

Angela F Brady

Marina Colombi

David J P Ferguson

Rebecca Pollitt

F Michael Pope

Marco Ritelli

Sofie Symoens

Neeti Ghali

Fleur S van Dijk

Affiliations

Soon will be listed here.

Abstract

Two probands are reported with pathogenic and likely pathogenic variants (frameshift and splice site) in whom no collagen flowers have been identified with transmission electron microscopy (TEM). One proband fulfils the clinical criteria for classical Ehlers-Danlos syndrome (cEDS) while the other does not and presents with a vascular complication. This case report highlights the significant intrafamilial variability within the cEDS phenotype and demonstrates that patients with pathogenic variants can have an absence of collagen flowers on TEM skin biopsy analysis. This has not been previously reported in the literature and is important when evaluating the significance of a TEM result in patients with clinically suspected cEDS and underscores the relevance of molecular analysis.

Citing Articles

Non-genetic diagnostic investigations in monogenic Ehlers-Danlos syndromes.

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Novel COL5A1 variants and associated disease phenotypes in dogs with classical Ehlers-Danlos syndrome.

Bullock G, Jaffey J, Cohn L, Sox E, Hostnik E, Hutcheson K J Vet Intern Med. 2024; 38(5):2431-2443.

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The role of cutaneous manifestations in the diagnosis of the Ehlers-Danlos syndromes.

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Mechanobiology in the Comorbidities of Ehlers Danlos Syndrome.

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The Role of Cell Adhesion and Cytoskeleton Dynamics in the Pathogenesis of the Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders.

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