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

Epidermal naevus syndrome--a case report.

Gautam Bhaduri1, Mita Khan

  • 1Regional Institute of Ophthalmology, Medical College, Kolkata 700073.

Journal of the Indian Medical Association
|April 10, 2004
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

Efficacy and Cost-Effectiveness of Anti-VEGF for Treating Diabetic Retinopathy in the Indian Population.

Clinical ophthalmology (Auckland, N.Z.)·2021
Same author

Pre-therapeutic Biomarkers for Ranibizumab Therapy among Type 2 Diabetic Patients with Diabetic Macular Edema.

Optometry and vision science : official publication of the American Academy of Optometry·2021
Same author

Biochemical scenario behind initiation of diabetic retinopathy in type 2 diabetes mellitus.

Indian journal of ophthalmology·2018
Same author

p-Benzoquinone-induced aggregation and perturbation of structure and chaperone function of α-crystallin is a causative factor of cigarette smoke-related cataractogenesis.

Toxicology·2017
Same author

Quantitative Analysis of Segmented Fluorescein Angiography Images for the Follow-up of Choroidal Neovascular Membrane.

Middle East African journal of ophthalmology·2015
Same author

Limbal epithelial stem-microenvironmental alteration leads to pterygium development.

Molecular and cellular biochemistry·2015

This case study presents epidermal nevus syndrome, a rare genetic disorder. It highlights a 25-year-old male with characteristic skin pigmentation, alopecia, and eyelid abnormalities.

Area of Science:

  • Dermatology
  • Genetics
  • Ophthalmology

Background:

  • Epidermal nevus syndrome (ENS) is a rare congenital disorder characterized by the presence of epidermal nevi along with abnormalities in other organ systems.
  • The syndrome is typically sporadic and associated with somatic mutations in genes involved in the Wnt signaling pathway.
  • Diagnosis is primarily clinical, based on the characteristic skin lesions and associated extracutaneous manifestations.

Observation:

  • A 25-year-old male presented with a lifelong history of unilateral epidermal nevi.
  • He exhibited maldevelopment of the left eyelid margin, specifically a coloboma-like defect.
  • Associated findings included extensive unilateral pigmentation of the body and patchy alopecia on the left side of his scalp.

Findings:

Related Experiment Videos

  • The patient's presentation is consistent with a diagnosis of epidermal nevus syndrome.
  • The specific combination of ocular, dermatological, and hair abnormalities is detailed.
  • This case adds to the spectrum of clinical manifestations reported in epidermal nevus syndrome literature.

    • Implications:

    • Early recognition of epidermal nevus syndrome is crucial for comprehensive management and genetic counseling.
    • Understanding the diverse clinical spectrum aids in diagnosing similar complex cases.
    • Further research into the genetic underpinnings and long-term outcomes of ENS is warranted.