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

[Comèl-Netherton syndrome]

S Blaschke1, R Möller, I Hausser

  • 1Hautklinik, am Klinikum Nürnberg-Nord.

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
|July 24, 1998
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

Optimizing Pre-Operative Clinical Staging in Resectable Non-Small Cell Lung Cancer (NSCLC): A Retrospective Cohort Study.

Thoracic cancer·2025
Same author

Long-term outcomes of patients who received extracorporeal cardiopulmonary resuscitation (ECPR) following in-hospital cardiac arrest: Analysis of EXCEL registry data.

Critical care and resuscitation : journal of the Australasian Academy of Critical Care Medicine·2025
Same author

Next-generation precision medicine for suicidality prevention.

Translational psychiatry·2024
Same author

Modelling biofilm development: The importance of considering the link between EPS distribution, detachment mechanisms and physical properties.

Water research·2023
Same author

Clinical utility of repeat fetal echocardiography in congenital heart disease.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2023
Same author

Patterns of endocardial fibroelastosis without atrioventricular block in fetuses exposed to anti-Ro/SSA antibodies.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2023
Same journal

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete·2022
Same journal

[Viral infections of the skin].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete·2022
Same journal

[Viral exanthems in children].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete·2022
Same journal

[Erratum to: Digital health applications and data protection].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete·2022
Same journal

[Virus-induced exanthems in returning travellers].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete·2022
Same journal

[Venous ulcus cruris-Surgical treatment].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete·2022
See all related articles

Comèl-Netherton syndrome, a rare genetic disorder, presents with ichthyosis, hair abnormalities, and atopic diathesis. This case highlights a delayed diagnosis and successful treatment with Acitretin.

Area of Science:

  • Dermatology
  • Clinical Genetics
  • Rare Diseases

Background:

  • Comèl-Netherton syndrome is an autosomal recessive genodermatosis.
  • It is characterized by a triad of ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic diathesis.

Observation:

  • A 23-year-old female presented with classic Comèl-Netherton syndrome features.
  • Diagnosis was delayed over two decades.
  • Additional findings included mild intellectual disability, genital papillomatosis, hypergammaglobulinaemia, and severe bilateral eyelid ectropion.

Findings:

  • The patient exhibited ichthyosis linearis circumflexa and trichorrhexis invaginata with unusually long bamboo hairs.
  • The clinical presentation was complicated by comorbidities not typically emphasized in classical descriptions.

Related Experiment Videos

  • Oral Acitretin therapy demonstrated significant therapeutic success.

    • Implications:

    • This case underscores the diagnostic challenges and prolonged latency in Comèl-Netherton syndrome.
    • It highlights the importance of recognizing atypical presentations and associated conditions.
    • Successful Acitretin treatment offers a viable therapeutic option for managing severe symptoms.