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. 2022 Jan 29;13(2):265. doi: 10.3390/genes13020265

Figure 3.

Figure 3

Ultrastructural findings of dermal collagen fibrils in different EDS types. (A) Control showing tightly packed collagen fibrils with uniform diameters. (B) Presence of some very large fibril diameters with irregular contours, called ‘collagen cauliflowers’ in classical EDS (cEDS) due to a heterozygous pathogenic variant in COL5A2. (C) Hieroglyphic aspect of the collagen fibrils in dermatosparaxis EDS (dEDS) due to biallelic pathogenic variants in ADAMTS2. (D) Increased interfibrillar spacing myopathic EDS (mEDS) due to a heterozygous pathogenic variant in COL12A1. (E) Collagen fibrils with large and small collagen fibril diameters and irregular contours in classical EDS-like type 2 (clEDS2) due to biallelic pathogenic variants in AEBP1. (F) Dispersed collagen fibrils with variable collagen fibril diameters, sporadic fibrils with very irregular contours and granulofilamentous deposits between collagen fibrils in spondylodysplastic EDS (spEDS) due to biallelic pathogenic variants in B3GALT6. (G) Collagen fibrils with variable diameters and the intermittent presence of small flower-like fibrils and irregular interfibrillar spaces filled with granulofilamentous deposits in musculocontractural EDS (mcEDS) due to biallelic pathogenic variants in CHST14. (H) Grossly normal collagen fibril architecture with mildly increased interfibrillar spacing in musculocontractural EDS (mcEDS) due to biallelic pathogenic variants in DSE. Scale bars: 500 nm.