Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Ehlers-Danlos syndrome type VIII

D L Nelson, R A King

    Journal of the American Academy of Dermatology
    |September 1, 1981
    PubMed
    Summary

    Ehlers-Danlos syndrome (EDS) type VIII is an inherited connective tissue disorder. It is characterized by specific skin scarring, early-onset periodontal disease, and tooth loss, with autosomal dominant inheritance.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Efficacy of a new schistosomicidal agent 2-[(methylpropyl)amino]-1-octanethiosulfuric acid against an oxamniquine resistant Schistosoma mansoni isolate.

    Memorias do Instituto Oswaldo Cruz·1999
    Same author

    Regulation and function of WASp in platelets by the collagen receptor, glycoprotein VI.

    Blood·1999
    Same author

    Retrovirus-mediated WASP gene transfer corrects defective actin polymerization in B cell lines from Wiskott-Aldrich syndrome patients carrying 'null' mutations.

    Gene therapy·1999
    Same author

    Alternative splicing in the murine and human FXR1 genes.

    Genomics·1999
    Same author

    The thrombocytopenia of Wiskott Aldrich syndrome is not related to a defect in proplatelet formation.

    Blood·1999
    Same author

    Cue set size effects: sampling activated associates or cross-target interference?

    Memory & cognition·1999

    Area of Science:

    • Genetics
    • Dermatology
    • Rheumatology

    Background:

    • Ehlers-Danlos syndrome (EDS) comprises inherited connective tissue disorders with varied clinical presentations.
    • At least nine EDS subgroups are recognized, each with distinct features or biochemical anomalies.

    Observation:

    • This study details three family members exhibiting findings consistent with EDS type VIII.
    • The condition manifests in childhood with bruising and unique pretibial scarring after minor trauma.
    • Key features include atrophic hyperpigmented scars on the shins, absence of skin hyperextensibility, and minimal joint hypermobility in one case.

    Findings:

    • EDS type VIII presents with characteristic early-onset periodontal disease and premature loss of permanent teeth.
    • Unlike other EDS types, significant skin hyperextensibility and visceral complications are not observed.
    • The disorder follows an autosomal dominant inheritance pattern within the described family.

    Implications:

    • This case series contributes to the understanding of the clinical spectrum and inheritance patterns of EDS type VIII.
    • Accurate diagnosis of EDS type VIII is crucial for managing associated symptoms like periodontal issues.
    • Further research into the specific genetic defect of EDS type VIII may reveal targeted therapeutic strategies.

    Related Experiment Videos