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

Rectal polyposis in tuberous sclerosis.

S R Gould1, J B Stewart, L N Temple

  • 1Department of Medicine, Epsom District Hospital, Surrey, England.

Journal of Mental Deficiency Research
|December 1, 1990
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

Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse.

Science advances·2019
Same author

Isolated pseudogout diagnosed on hip arthroscopy.

The Journal of bone and joint surgery. British volume·2009
Same author

Lessons from the Falklands campaign.

Journal of the Royal Army Medical Corps·2008
Same author

It could only happen to a doctor--Haemophilus aphrophilus septicaemia complicated by a prevertebral infection after dental work.

Postgraduate medical journal·2001
Same author

Laboratory findings associated with thrombophilia are not more common in inflammatory bowel disease.

Clinical and laboratory haematology·2000
Same author

System failure. Author describes how a physician suspected of murder managed to slip through the cracks at several hospitals. Interview by Scott Hensley.

Modern healthcare·2000

Microhamartomatous rectal polyps are a common finding in patients with tuberous sclerosis (TS). These polyps, though not clinically significant, are important diagnostic markers for TS.

Area of Science:

  • Gastroenterology
  • Genetics
  • Dermatology

Background:

  • Tuberous sclerosis (TS) is a genetic disorder with varied clinical manifestations.
  • Facial angiofibromata are a well-established diagnostic marker for TS.
  • The gastrointestinal manifestations of TS are less well-characterized.

Purpose of the Study:

  • To investigate the prevalence and significance of microhamartomatous rectal polyps in patients with tuberous sclerosis.
  • To assess the diagnostic value of these rectal polyps as a marker for TS.

Main Methods:

  • Retrospective analysis of 15 patients diagnosed with tuberous sclerosis.
  • Endoscopic examination and histological evaluation of rectal polyps.

Main Results:

Related Experiment Videos

  • Microhamartomatous rectal polyps were identified in 11 out of 15 patients (73%) with TS.
  • These polyps were found to be histologically benign and of no direct clinical consequence.
  • The prevalence of these polyps is high in the studied TS cohort.

Conclusions:

  • Microhamartomatous rectal polyps are a frequent and characteristic finding in tuberous sclerosis.
  • Their high prevalence and unique nature make them a significant, albeit often overlooked, clinical marker for TS, comparable to facial angiofibromata.