The Ehlers-Danlos syndromes (EDS) comprise a genetically heterogeneous group of heritable disorders, clinically characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. The currently used nomenclature and classification, published in 2017, recognize 13 types, and several additional types have also been described. The pathomechanisms of EDS include abnormalities in the genes for fibrillar collagen types I, III, and V; enzymes modifying or processing these collagens; enzymes involved in the biosynthesis of the glycosaminoglycan chains of proteoglycan; and proteins playing more complex roles in the maintenance of extracellular matrices. Furthermore, clinical overlaps among cases with different types as well as discoveries of EDS-like phenotypes with novel pathomechanisms have been described. The spectrum of EDS is considered to be much wider than expected, and it would help delineate this clinical and pathophysiological spectrum to describe and share clinical and pathophysiological findings of variable and valuable cases.
The scope of this Research Topic is to delineate the wide and complex spectrum of EDS through showcasing variable and valuable cases with EDS; typically, additional cases with rare types as well as cases with major types but with unique phenotypes. Recommended styles of articles are as follows:
#1: Case reports: Additional cases with rare types as well as cases with major types but presenting with atypical features or courses are expected. Natural animal cases are also included. Detailed clinical description including relevant images is recommended. Some accompanying pathophysiological findings (molecular, biochemical, ultrastructural, physiological, etc) are welcome.
#2: Pathomechanism reports: Reports mainly describing pathomechanisms are also welcome. These reports include novel pathophysiological findings detected in cases with EDS as well as findings shown through animal model studies.
#2: Review articles: Sophisticated review articles especially addressing clinical and pathophysiological findings of rare types of EDS are welcome.
Please note: case reports must conform to the section scope and that pathogenic or likely pathogenic variants in a known causal gene with a typical phenotype will not be considered.
Prof. Tomoki Kosho is a member of an endowed chair named as “Division of Clinical Sequencing, Shinshu University School of Medicine” sponsored by BML, Inc. and Life Technologies Japan Ltd. of Thermo Fisher Scientific Inc. All other Topic Editors declare no competing interests with regards to the Research Topic subject
The Ehlers-Danlos syndromes (EDS) comprise a genetically heterogeneous group of heritable disorders, clinically characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. The currently used nomenclature and classification, published in 2017, recognize 13 types, and several additional types have also been described. The pathomechanisms of EDS include abnormalities in the genes for fibrillar collagen types I, III, and V; enzymes modifying or processing these collagens; enzymes involved in the biosynthesis of the glycosaminoglycan chains of proteoglycan; and proteins playing more complex roles in the maintenance of extracellular matrices. Furthermore, clinical overlaps among cases with different types as well as discoveries of EDS-like phenotypes with novel pathomechanisms have been described. The spectrum of EDS is considered to be much wider than expected, and it would help delineate this clinical and pathophysiological spectrum to describe and share clinical and pathophysiological findings of variable and valuable cases.
The scope of this Research Topic is to delineate the wide and complex spectrum of EDS through showcasing variable and valuable cases with EDS; typically, additional cases with rare types as well as cases with major types but with unique phenotypes. Recommended styles of articles are as follows:
#1: Case reports: Additional cases with rare types as well as cases with major types but presenting with atypical features or courses are expected. Natural animal cases are also included. Detailed clinical description including relevant images is recommended. Some accompanying pathophysiological findings (molecular, biochemical, ultrastructural, physiological, etc) are welcome.
#2: Pathomechanism reports: Reports mainly describing pathomechanisms are also welcome. These reports include novel pathophysiological findings detected in cases with EDS as well as findings shown through animal model studies.
#2: Review articles: Sophisticated review articles especially addressing clinical and pathophysiological findings of rare types of EDS are welcome.
Please note: case reports must conform to the section scope and that pathogenic or likely pathogenic variants in a known causal gene with a typical phenotype will not be considered.
Prof. Tomoki Kosho is a member of an endowed chair named as “Division of Clinical Sequencing, Shinshu University School of Medicine” sponsored by BML, Inc. and Life Technologies Japan Ltd. of Thermo Fisher Scientific Inc. All other Topic Editors declare no competing interests with regards to the Research Topic subject
