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

Tuberous xanthomas in sitosterolemia.

M Alam1, M C Garzon, G Salen

  • 1Departments of Dermatology and Pediatrics, College of Physicians and Surgeons, Columbia University, New York, New York, USA.

Pediatric Dermatology
|December 21, 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

Malabsorption in intestinal scleroderma. Relation to bacterial flora and treatment with antibiotics.

Annals of internal medicine·2013
Same author

Efficacy and safety of ezetimibe 40 mg vs. ezetimibe 10 mg in the treatment of patients with homozygous sitosterolaemia.

International journal of clinical practice·2008
Same author

Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia.

Circulation·2004
Same author

Normal cognition and behavior in a Smith-Lemli-Opitz syndrome patient who presented with Hirschsprung disease.

American journal of medical genetics. Part A·2003
Same author

Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.

Clinical genetics·2002
Same author

Developmental sensitivity of associative learning to cholesterol synthesis inhibitors.

Behavioural brain research·2002
Same journal

Adverse Childhood Experiences and Pediatric Dermatology: Implications for Care, Equity, and Research.

Pediatric dermatology·2026
Same journal

State-of-the-Art Review: Vaccination in Pediatric Dermatology Patients Receiving Immunosuppressive or Immunomodulatory Therapy: A Review.

Pediatric dermatology·2026
Same journal

Multisystem Mucosal Morbidity in Recessive Dystrophic Epidermolysis Bullosa Inversa.

Pediatric dermatology·2026
Same journal

Infantile Transient Smooth Muscle Contraction of the Skin in Two Sisters.

Pediatric dermatology·2026
Same journal

Are 2021 CMS Changes Enough to Address the Pediatric Dermatology Crisis?

Pediatric dermatology·2026
Same journal

Annular Eruption in 12-Year-Old Boy.

Pediatric dermatology·2026
See all related articles

Sitosterolemia is a rare genetic lipid disorder causing high plant sterol levels and xanthomas. Early diagnosis by dermatologists is crucial for preventing severe cardiovascular events in children.

Area of Science:

  • Lipidology
  • Genetics
  • Dermatology

Background:

  • Sitosterolemia is an autosomal recessive disorder characterized by extremely elevated plasma plant sterol levels.
  • Clinical manifestations include xanthomas, premature vascular disease, and arthritis.
  • Adolescents are at risk for fatal cardiac events.

Observation:

  • A case of a 7-year-old girl with sitosterolemia and tuberous xanthomas is presented.
  • This highlights the potential role of dermatologists in identifying the condition.

Findings:

  • Sitosterolemia leads to significantly high levels of plant sterols in the blood.
  • Cholesterol levels may be elevated or normal in affected individuals.
  • Tuberous xanthomas are a key clinical sign.

Related Experiment Videos

Implications:

  • Early detection and treatment of sitosterolemia are vital for preventing atherosclerotic heart disease.
  • Dermatological examination can aid in the early diagnosis of this rare lipid disorder.
  • Prompt management can mitigate the risk of severe cardiovascular complications in pediatric patients.