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

[Pit-shaped enamel defects in tuberous sclerosis]

F Vakilzadeh, R Happle

    Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
    |June 1, 1980
    PubMed
    Summary

    Pit-shaped enamel defects were observed in six patients with tuberous sclerosis. These dental anomalies may aid in diagnosing tuberous sclerosis, especially in mild cases.

    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

    Molecular evidence of type 2 mosaicism in Gorlin syndrome.

    The British journal of dermatology·2013
    Same author

    Naevus marginatus revisited: a combined organoid and nonorganoid epidermal naevus caused by HRAS mutation.

    The British journal of dermatology·2012
    Same author

    Acromelanosis albo-punctata: a distinct inherited dermatosis with acral spotty dyspigmentation without systemic involvement.

    Dermatology (Basel, Switzerland)·2012
    Same author

    Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).

    The British journal of dermatology·2012
    Same author

    Porokeratosis palmaris, plantaris et disseminata vs. porokeratosis of Mibelli.

    The British journal of dermatology·2011
    Same author

    Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease.

    The British journal of dermatology·2011

    Area of Science:

    • Dentistry
    • Genetics
    • Medical Diagnostics

    Background:

    • Tuberous sclerosis is a genetic disorder affecting multiple organs.
    • Enamel defects are sometimes associated with genetic syndromes.

    Observation:

    • Six patients diagnosed with tuberous sclerosis presented with distinct pit-shaped enamel defects.
    • The enamel defects were consistently observed across the affected individuals.

    Findings:

    • The pit-shaped enamel defects appear to be a characteristic sign of tuberous sclerosis.
    • These dental findings are potentially pathognomonic for the syndrome.

    Implications:

    • This observation could lead to earlier diagnosis of tuberous sclerosis.
    • Dental examination may become a valuable tool for identifying oligosymptomatic cases.
    • Further research can validate these enamel defects as a diagnostic marker.

    Related Experiment Videos