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

Lipoid proteinosis: case report.

M J Farolan1, S G Ronan, L M Solomon

  • 1Department of Pathology, University of Illinois, Chicago.

Pediatric Dermatology
|September 1, 1992
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

Pancreatic heterotopia and other uncommon causes of non-malignant biliary obstruction.

Surgical oncology·2001
Same author

Atypical Spitz nevi/tumors: lack of consensus for diagnosis, discrimination from melanoma, and prediction of outcome.

Human pathology·1999
Same author

Molecular prognostic markers in intermediate-thickness cutaneous malignant melanoma.

Cancer·1999
Same author

Molecular analysis of 1p36 breakpoints in two Merkel cell carcinomas.

Genes, chromosomes & cancer·1998
Same author

Determination and correlation of in vitro viability for hairless mouse and human neonatal whole skin and stratum corneum/epidermis.

Archives of dermatological research·1997
Same author

Histological response to stent graft therapy.

Circulation·1996
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

Lipoid proteinosis, a rare genetic disorder, presented in a young Kuwaiti girl, a population not typically affected. Further research is needed to understand its biochemical and genetic basis.

Area of Science:

  • Genetics
  • Dermatology
  • Rare Diseases

Background:

  • Lipoid proteinosis is a rare autosomal recessive disorder characterized by hyaline deposition in the skin and other organs.
  • The disorder is more commonly observed in Caucasian populations, making its presentation in other ethnicities noteworthy.

Observation:

  • A 20-month-old Kuwaiti girl exhibited clinical manifestations consistent with lipoid proteinosis.
  • This case highlights the potential for lipoid proteinosis to occur outside of its typically observed demographic.

Findings:

  • Diagnosis of lipoid proteinosis relies on a combination of clinical presentation, histopathological examination, and ultrastructural analysis.
  • The specific biochemical pathways and genetic mutations underlying lipoid proteinosis remain largely uncharacterized.

Related Experiment Videos

Implications:

  • This case underscores the importance of considering rare genetic disorders even in atypical populations.
  • Further investigation into the genetic and biochemical underpinnings of lipoid proteinosis is crucial for improved diagnosis and potential therapeutic strategies.