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

Restrictive dermopathy in two brothers.

R Happle1, J H Stekhoven, B C Hamel

  • 1Department of Dermatology, University of Nijmegen, The Netherlands.

Archives of Dermatology
|February 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

PRKN-related familial Parkinson's disease: First molecular confirmation from East Africa.

Parkinsonism & related disorders·2020
Same author

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy.

Case reports in genetics·2020
Same author

First familial Becker muscular dystrophy in Tanzania: Clinical and genetic features<sup>.</sup>

Neuromuscular disorders : NMD·2019
Same author

Maternal quality of life in routine labor epidural analgesia versus labor analgesia on request: results of a randomized trial.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation·2018
Same author

Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.

Case reports in genetics·2017
Same author

Fetal Alcohol Spectrum Disorders (FASD): an Approach to Effective Prevention.

Current developmental disorders reports·2016

Restrictive dermopathy, a rare genetic skin disorder, causes fetal akinesia and neonatal death. Early fetal biopsies may not diagnose this condition, highlighting diagnostic challenges.

Area of Science:

  • Genetics
  • Dermatology
  • Neonatology

Background:

  • Restrictive dermopathy is an autosomal recessive disorder.
  • Characterized by universal taut skin, fetal akinesia, and neonatal death.
  • An uncommon condition with severe clinical manifestations.

Observation:

  • Two brothers presented with growth retardation, desquamation, joint contractures, and facial hypoplasia.
  • Histopathology revealed hyperorthokeratosis, parakeratosis, and absent dermal elastic fibers.
  • Electron microscopy showed epidermal keratin filament absence and abnormal keratohyalin granules.

Findings:

  • Fetal biopsies at 20 weeks gestation were nondiagnostic via light and electron microscopy.
  • Clinical presentation allows for on-the-spot diagnosis.

Related Experiment Videos

  • The disease leads to fetal akinesia and impaired intrauterine development.

    • Implications:

    • Restrictive dermopathy is a distinct skin disease impacting fetal development.
    • Prenatal diagnosis feasibility requires cautious consideration.
    • Further research is needed to improve early detection and management strategies.