Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

Restrictive dermopathy in two sisters.

Jia-Woei Hou¹, Chien-Fang Mai

¹Division of Medical Genetics, Department of Pediatrics, Chang Gung Children's Hospital, Taipei, Taiwan, ROC. houjw741@cgmh.org.tw

Chang Gung Medical Journal

|October 1, 2003

Summary

Restrictive dermopathy (RD) is a rare, lethal congenital skin disease inherited in an autosomal recessive pattern. This report details two siblings with RD, highlighting the characteristic stiff skin and facial abnormalities.

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

Prenatal exposure to bisphenol A and parabens and birth outcomes: The Taiwan Maternal and Infant Cohort Study (TMICS).

Taiwanese journal of obstetrics & gynecology·2026

Same author

Comparative Efficacy of GnRHa Monotherapy vs Combination Therapy for Central Precocious Puberty.

The Journal of clinical endocrinology and metabolism·2025

Same author

Choosing sweeteners wisely-nutrigenetic study on childhood obesity.

Nutrition & metabolism·2025

Same author

Exploring Machine Learning for Predicting Peripheral and Central Precocious Puberty Through Cross-Hospital Validation.

Studies in health technology and informatics·2025

Same author

Sleep Duration Transitions Among Children With Central Precocious Puberty Across Pubertal Development.

The Journal of adolescent health : official publication of the Society for Adolescent Medicine·2025

Same author

Socioeconomic status in the association between use of personal care products and exposure to endocrine-disrupting chemicals in pregnant Taiwanese women.

Frontiers in public health·2025

Area of Science:

Genetics
Dermatology
Pediatrics

Background:

Restrictive dermopathy (RD) is an extremely rare, lethal congenital skin disorder.
It follows an autosomal recessive inheritance pattern.
Key features include rigid skin, joint contractures (arthrogryposis), and distinct facial dysmorphia.

Observation:

This report describes two siblings from consecutive pregnancies diagnosed with restrictive dermopathy.
Both infants exhibited the hallmark features of RD, including generalized joint contractures and characteristic facial abnormalities.
The siblings unfortunately passed away shortly after birth due to complications.

Findings:

The affected siblings presented with severe generalized joint contractures and a characteristic dysmorphic facial appearance.
The skin exhibited extreme rigidity, a defining characteristic of restrictive dermopathy.
The infants succumbed to sepsis and respiratory insufficiency within their first week of life.

Implications:

Restrictive dermopathy may result from a fetal akinesia/hypokinesia sequence.
The severe skin defect can contribute to the observed arthrogryposis and facial abnormalities.
Understanding the pathogenesis of RD is crucial for potential future genetic counseling and management strategies.

Related Experiment Videos