Literature DB >> 23051630

Light and electron microscopy of classical Ehlers-Danlos syndrome.

Hiram L de Almeida1, Eduardo Bicca, Nara M Rocha, Luis A S de Castro.   

Abstract

A 12-year-old boy with difficulty in wound healing and abnormal scars since early childhood was examined. Light microscopy showed loose and disperse dermal collagen with rare bundles, and fibroblasts show an irregular morphology. The fibrous sheath of hair presented a normal parallel distribution of the collagen fibers with normal spindle-shaped fibroblasts. Transmission electron microscopy also found disorganized collagen fibers, which were seen in a same field in longitudinal and cross sections. With high magnifications, an amorphous substance was seen near to loose collagen fibers, which showed variable diameters in cross sections. Scanning electron microscopy of the dermis showed disorganized collagen fibers and with higher magnification, important collagen disarrangement was observed with isolated and crossed-over fibers.

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Year:  2013        PMID: 23051630     DOI: 10.1097/DAD.0b013e3182713293

Source DB:  PubMed          Journal:  Am J Dermatopathol        ISSN: 0193-1091            Impact factor:   1.533


  2 in total

1.  Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients.

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
Journal:  Genes (Basel)       Date:  2019-09-27       Impact factor: 4.096

2.  Classic Ehlers-Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1.

Authors:  Wei-Ching Chiu; Shu-Huey Chen; Mei-Chen Lo; Yung-Ting Kuo
Journal:  BMC Pediatr       Date:  2020-10-27       Impact factor: 2.125

  2 in total

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