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

Hereditary hemorrhagic telangiectasia.

Nathalie Q Nguyen1

  • 1Departmentof Dermatology, New York University School of Medicine, USA.

Dermatology Online Journal
|January 13, 2006
PubMed
Summary
This summary is machine-generated.

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

A case series of primary cutaneous coccidioidomycosis after a record-breaking rainy season.

JAAD case reports·2018
Same author

Eosinophilic cellulitis and dermographism.

Dermatology online journal·2006
Same author

Telangiectasia macularis eruptiva perstans.

Dermatology online journal·2005
Same author

Cutis verticis gyrata.

Dermatology online journal·2003
Same author

Subcutaneous T-cell lymphoma.

Dermatology online journal·2003
Same author

Idiopathic CD4+T-cell lymphocytopenia associated with vitiligo.

Journal of the American Academy of Dermatology·2002

Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder causing abnormal blood vessel formation. This review covers HHT

Area of Science:

  • Genetics and Molecular Biology
  • Vascular Biology
  • Medical Genetics

Background:

  • Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder.
  • Characterized by arteriovenous malformations (AVMs) in various organs.
  • Often presents with mucocutaneous telangiectases and recurrent epistaxis.

Observation:

  • A case of a 45-year-old male patient with HHT is presented.
  • The patient exhibited numerous mucocutaneous telangiectases and recurrent nosebleeds.
  • A family history of similar symptoms in first-degree relatives was noted.

Findings:

  • HHT is associated with mutations in the endoglin (ENG) and activin receptor-like kinase-1 (ACVRL1 or ALK-1) genes.
  • These genes are located on chromosomes 9q33-34 and 12q13, respectively.

Related Experiment Videos

  • The encoded proteins are crucial for transforming growth factor-beta (TGF-β) signaling.

    • Implications:

    • Understanding the genetic basis of HHT aids in diagnosis and genetic counseling.
    • Knowledge of molecular pathways informs potential therapeutic strategies.
    • Comprehensive review of clinical features and management is essential for patient care.