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

Recognizing an index case of tuberous sclerosis.

J S Hurst1, S Wilcoski

  • 1Department of Medical Education, Columbus Regional Family Practice Residency Program, Georgia 31901, USA.

American Family Physician
|March 1, 2000
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

Rod outer segments mediate mitochondrial DNA damage and apoptosis in human retinal pigment epithelium.

Current eye research·2002
Same author

Hydrogen peroxide stimulates apoptosis in cultured human retinal pigment epithelial cells.

Current eye research·2001
Same author

The color difference in orbital fat.

Archives of ophthalmology (Chicago, Ill. : 1960)·2001
Same author

Carotenoid oxidative degradation products inhibit Na+-K+-ATPase.

Free radical research·2000
Same author

Lutein and zeaxanthin are associated with photoreceptors in the human retina.

Current eye research·1999
Same author

The sensitivity of bovine corneal epithelial lyso-PAF acetyltransferase to cyclooxygenase and lipoxygenase inhibitors is independent of arachidonate metabolites.

Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics·1997

Tuberous sclerosis, a common neurocutaneous disorder, presents with varied skin signs like ash-leaf spots and angiofibromas. Early dermatologic recognition is key for diagnosing this condition, which also affects the brain and other organs.

Area of Science:

  • Neurology
  • Dermatology
  • Genetics

Background:

  • Tuberous sclerosis is a prevalent neurocutaneous syndrome, second only to neurofibromatosis.
  • It is characterized by a wide spectrum of clinical manifestations, impacting multiple organ systems.

Observation:

  • Dermatologic findings are often the initial indicators for family physicians diagnosing tuberous sclerosis.
  • Key cutaneous signs include hypopigmented ash-leaf spots, facial angiofibromas (adenoma sebaceum), forehead plaques, lumbar shagreen patches, and nail fibromas.

Findings:

  • Neuroimaging, such as CT and MRI, detects characteristic intracranial lesions like subependymal nodules and cortical tubers.
  • Associated pathologies in the heart, retina, kidneys, and lungs contribute significantly to patient morbidity and mortality.

Related Experiment Videos

Implications:

  • Recognizing dermatologic manifestations is crucial for early diagnosis of tuberous sclerosis.
  • Genetic counseling presents challenges due to variable gene expression and frequent de novo mutations, impacting prognostic accuracy.