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

Lamellar ichthyosis.

Frank Victor1, Julie V Schaffer

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

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

A mild form of lamellar ichthyosis (LI) was diagnosed in a child presenting with generalized scaling. This condition, along with nonbullous congenital ichthyosiform erythroderma (NBCIE), represents a spectrum of autosomal recessive ichthyosis.

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

Visual recognition and medical dermatology learning needs identified through continuing certification program assessments of the American Board of Dermatology.

Journal of the American Academy of Dermatology·2026
Same author

Pediatric Dermatology Learning Needs Identified Through Continuing Certification Program Assessments of the American Board of Dermatology.

Pediatric dermatology·2025
Same author

Dermatopathology Learning Needs Identified Through Continuing Certification Program Assessments of the American Board of Dermatology.

Journal of cutaneous pathology·2025
Same author

Cosmetic and Surgical Dermatology Learning Needs Identified Through Continuing Certification Program Assessments of the American Board of Dermatology.

Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.]·2025
Same author

Letter from the journal: Improving diagnostic acumen and patient outcomes.

Journal of the American Academy of Dermatology·2023
Same author

Pigmentary mosaicism.

Clinics in dermatology·2022
Same journal

Pellagra associated with iron deficiency.

Dermatology online journal·2026
Same journal

Demodicosis: A frequently underrecognized cause of recalcitrant ear pruritus.

Dermatology online journal·2026
Same journal

Association of alopecia areata with COVID-19 vaccination: A vaccine adverse events reporting system analysis.

Dermatology online journal·2026
Same journal

Gender based price differences in 5% minoxidil foam: The impact of generic alternatives and bulk packaging.

Dermatology online journal·2026
Same journal

Retrospective analysis of filler complications reported in the manufacturer and user facility device experience database from 2015 to 2025.

Dermatology online journal·2026
Same journal

Characterizing barriers to care in patients with hidradenitis suppurativa.

Dermatology online journal·2026
See all related articles

Area of Science:

  • Genetics
  • Dermatology
  • Rare Diseases

Background:

  • Ichthyosis encompasses a group of genetic skin disorders characterized by dry, scaling skin.
  • Lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NBCIE) are severe forms of autosomal recessive congenital ichthyosis (ARCI).
  • These conditions represent distinct phenotypes within the ARCI spectrum, with varying clinical presentations and severity.

Observation:

  • A 6-year-old African boy presented with generalized scaling and flexural accentuation.
  • The patient exhibited large, brown, polygonal scales on the face and extremities.
  • A history of collodion membrane was noted, but erythroderma was absent.

Findings:

  • The clinical presentation, characterized by generalized scaling and lack of erythroderma, is consistent with a mild form of lamellar ichthyosis (LI).

Related Experiment Videos

  • Genetic mutations in genes such as TGM1, ABCA12, ichthyin, ALOXE3, and ALOX12B are known to cause both LI and NBCIE.
  • This case highlights the phenotypic variability within the autosomal recessive ichthyosis spectrum.

    • Implications:

    • Accurate diagnosis of ichthyosis subtypes is crucial for appropriate management and genetic counseling.
    • Understanding the genetic basis of LI and NBCIE aids in identifying potential therapeutic targets.
    • Further research into the specific mutations and their correlation with clinical phenotypes can improve patient outcomes.