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

[Sjögren-Larsson syndrome].

M Möhrenschlager1, W B Rizzo, C S Kraus

  • 1Klinik und Poliklinik für Dermatologie und Allergologie am Biederstein, Technische Universität München.

Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
|May 16, 2000
PubMed
Summary

This rare neurocutaneous disorder, characterized by congenital ichthyosis and neurological deficits, results from a fatty aldehyde dehydrogenase deficiency. Early diagnosis and management are crucial for affected individuals.

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

[Potassium hydroxide 5 % solution in actinic keratosis : A novel therapeutic approach in the lesion-directed treatment].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete·2021
Same author

Topical hydrocortisone 17-butyrate 21-propionate in the treatment of inflammatory skin diseases: pharmacological data, clinical efficacy, safety and calculation of the therapeutic index.

Die Pharmazie·2016
Same author

[Frequent pathogen-induced diseases of the scalp].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete·2014
Same author

[Contact allergy on nickel].

MMW Fortschritte der Medizin·2011
Same author

Onychomycosis.

Mycoses·2007
Same author

Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.

Journal of medical genetics·2007

Area of Science:

  • Genetics
  • Biochemistry
  • Neurology

Background:

  • Neurocutaneous disorders are a group of rare genetic conditions affecting the skin and nervous system.
  • Autosomal recessive inheritance patterns are common in many rare genetic diseases.
  • Congenital ichthyosis, spasticity, and intellectual disability are key features of this specific neurocutaneous disorder.

Observation:

  • A case of a 3.5-year-old white female with this rare neurocutaneous disorder is presented.
  • The patient exhibited primary clinical manifestations including congenital ichthyosis and neurological impairments.
  • Diagnostic procedures and therapeutic interventions were evaluated for the affected child.

Findings:

  • The underlying biochemical defect is a deficiency of the enzyme fatty aldehyde dehydrogenase (FALDH).

Related Experiment Videos

  • FALDH is a component of the fatty alcohol:NAD+ oxidoreductase enzyme complex.
  • This deficiency explains the observed clinical phenotype in affected individuals.

    • Implications:

    • Understanding the biochemical basis aids in accurate diagnosis and genetic counseling.
    • Early prenatal and postnatal diagnostic approaches are essential for timely intervention.
    • Knowledge of therapeutic options can improve management strategies and patient outcomes.