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

Hidrotic ectodermal dysplasia with corneal involvement.

J P Donahue1, C J Shea, M J Taravella

  • 1Department of Ophthalmology, University of Colorado Health Sciences Center, Denver 80262, USA.

Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
|December 29, 1999
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

Intracranial infantile hemangiomas associated with PHACE syndrome.

AJNR. American journal of neuroradiology·2007
Same author

Vesicant characteristics of oxaliplatin following antecubital extravasation.

Clinical oncology (Royal College of Radiologists (Great Britain))·2003
Same author

Functional analysis of iceA1, a CATG-recognizing restriction endonuclease gene in Helicobacter pylori.

Nucleic acids research·2002
Same author

Modeling passive mechanical interaction between aqueous humor and iris.

Journal of biomechanical engineering·2002
Same author

Comparison of measured astigmatic retinoscopies from different lid specula.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus·2001
Same author

Quadridentate bridging EO(4)(2-) (E = S, Mo, W) ligands and their role as electronic bridges.

Inorganic chemistry·2001
Same journal

Lipemia retinalis in a neonate with Kaufman oculocerebrofacial syndrome: a case of co-occurrence.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus·2026
Same journal

Extensive conjunctival papillomatosis in focal dermal hypoplasia.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus·2026
Same journal

Dacryoendoscopic findings and treatment of congenital lacrimal duct obstruction in Wolf-Hirschhorn syndrome: a case series.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus·2026
Same journal

A presumed case of tinea blepharociliaris in a 10-year-old boy.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus·2026
Same journal

Ferret attack requiring eyelid, lacrimal system, and facial reconstruction to restore anatomy and function.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus·2026
Same journal

Postoperative syphilitic scleritis following strabismus surgery.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus·2026
See all related articles

This study reports a rare case of hidrotic ectodermal dysplasia in a father and son, highlighting unusual ocular complications like recurrent corneal defects and cataracts.

Area of Science:

  • Genetics
  • Ophthalmology
  • Dermatology

Background:

  • Ectodermal dysplasias (EDs) are a group of genetic disorders affecting ectodermal derivatives.
  • Classic EDs involve hair, teeth, nails, and sweat glands, with ocular involvement often seen in anhidrotic forms.
  • Hidrotic ectodermal dysplasia (HED) is a less common subtype.

Observation:

  • A father and son presented with symptoms suggestive of HED.
  • Both individuals exhibited congenital recurrent corneal epithelial defects, corneal neovascularization, and strabismus.
  • The father developed early-onset cataracts with unique crystalline and amorphous inclusions.

Findings:

  • The described cases represent a previously unreported form of hidrotic ectodermal dysplasia.
  • Ocular manifestations in this HED cohort included persistent corneal issues and early cataracts.

Related Experiment Videos

  • Associated findings included alopecia and dermatological abnormalities.

    • Implications:

    • This case expands the known clinical spectrum of hidrotic ectodermal dysplasia.
    • Highlights the importance of ophthalmological evaluation in diagnosing HED.
    • Suggests a potential genetic link between HED and specific corneal pathologies.