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

[Congenital generalized cutis laxa: 5 cases].

M Rybojad1, C Baumann, G Godeau

  • 1Service de dermatologie, Hôpital Saint-Louis, Paris.

Annales De Dermatologie Et De Venereologie
|July 28, 1999
PubMed
Summary

Congenital cutis laxa is a rare genetic disorder. This study highlights its clinical and genetic heterogeneity, with varied inheritance patterns and prognoses observed in five pediatric cases.

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

Neurological complications associated with EMONO in patients with epidermolysis bullosa.

Journal of the European Academy of Dermatology and Venereology : JEADV·2026
Same author

Risk of persistent hypogammaglobulinaemia in children with autoimmune bullous dermatoses treated with rituximab.

Journal of the European Academy of Dermatology and Venereology : JEADV·2025
Same author

Erratum: Centrality-Dependent Modification of Jet-Production Rates in Deuteron-Gold Collisions at sqrt[s_{NN}]=200  GeV [Phys. Rev. Lett. 116, 122301 (2016)].

Physical review letters·2025
Same author

Gynaeco-obstetrical follow-up of patients with dystrophic epidermolysis bullosa, a prospective study.

Orphanet journal of rare diseases·2025
Same author

ECFS standards of care on CFTR-related disorders: Identification and care of the disorders.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2024
Same author

French national diagnostic and care protocol for Kawasaki disease.

La Revue de medecine interne·2023

Area of Science:

  • Dermatology
  • Genetics
  • Pediatrics

Background:

  • Congenital cutis laxa is an exceptionally rare connective tissue disorder.
  • No extensive case series have been published in French literature.
  • This report details five pediatric cases observed between 1993 and 1997.

Observation:

  • Five children presenting with congenital generalized cutis laxa were evaluated.
  • Diagnostic methods included family history, visceral assessments, skin biopsies with histological and histomorphometric analysis, karyotyping, and copper metabolism tests.
  • Specific tests included orceine staining for elastic fibers and assessment of serum copper (cupremia) and ceruloplasmin levels.

Findings:

  • Clinical diagnosis was confirmed histologically in all cases.

Related Experiment Videos

  • One case showed discrete ultrastructural anomalies and possible autosomal dominant inheritance.
  • Four cases exhibited probable autosomal recessive inheritance with severe prognoses, including one fatality due to pulmonary emphysema and others with severe malformative syndromes.

    • Implications:

    • Congenital cutis laxa represents a clinically and genetically heterogeneous group of disorders.
    • Associated anomalies in some patients were not directly linked to elastic tissue abnormalities.
    • Findings underscore the complexity of cutis laxa and the need for comprehensive genetic and clinical evaluation.