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

Heritable metabolic storage diseases.

W Gebhart

    Journal of Cutaneous Pathology
    |June 1, 1985
    PubMed
    Summary
    This summary is machine-generated.

    Skin biopsy analysis aids in diagnosing metabolic storage diseases. Light and electron microscopy of skin can reveal deposition of storage materials, offering diagnostic insights.

    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

    Physical changes of amniotic membranes through glycerolization for the use as an epidermal substitute. Light and electron microscopic studies.

    Cell and tissue banking·2004
    Same author

    A case of 'smouldering' mastocytosis with high mast cell burden, monoclonal myeloid cells, and C-KIT mutation Asp-816-Val.

    Leukemia research·2001
    Same author

    Hydroxyethylstarch deposits in human skin--a model for pruritus?

    Archives of dermatological research·1993
    Same author

    Human papillomavirus in cervix carcinoma and condylomata acuminata--identification of HPV-DNA by improved dot-blot-hybridization.

    Clinical and experimental dermatology·1992
    Same author

    Comparative histochemistry of port-wine stains after copper vapor laser (578 nm) and argon laser treatment.

    The Journal of investigative dermatology·1992
    Same author

    Histological and immunohistochemical investigations of hydroxyethyl-starch deposits in rat tissues.

    European surgical research. Europaische chirurgische Forschung. Recherches chirurgicales europeennes·1992
    Same journal

    Blastic Plasmacytoid Dendritic Cell Neoplasm.

    Journal of cutaneous pathology·2026
    Same journal

    Atypical Grover Disease Associated With Merkel Cell Carcinoma: A Novel Paraneoplastic Presentation.

    Journal of cutaneous pathology·2026
    Same journal

    Profile of a Founder: Herbert Zachareus Lund.

    Journal of cutaneous pathology·2026
    Same journal

    The National Resident Match Program Arrives in Dermatopathology: 15 Years of Resilient Advocacy by the American Society of Dermatopathology's Fellowship Training Program Directors' Committee.

    Journal of cutaneous pathology·2026
    Same journal

    Evaluating Large Language Models for Melanocytic Lesion Pathology Report Interpretation.

    Journal of cutaneous pathology·2026
    Same journal

    An Atypical Skin Presentation of Adult-Onset Still's Disease With Histological Description: A Case Report.

    Journal of cutaneous pathology·2026
    See all related articles

    Area of Science:

    • Dermatopathology
    • Metabolic Diseases
    • Histopathology

    Background:

    • Skin biopsies are increasingly vital for diagnosing metabolic storage diseases.
    • Over 300 inborn errors of metabolism are known, often involving storage material deposition.
    • Cutaneous tissue elements can accumulate various storage materials.

    Purpose of the Study:

    • To highlight the diagnostic potential of dermatopathology in metabolic storage diseases.
    • To present representative examples of skin findings in these disorders.
    • To explore the utility of microscopic investigations in metabolic disease diagnosis.

    Main Methods:

    • Review of light and electron microscopic findings in skin biopsies.
    • Correlation of histopathological features with known metabolic defects.

    Related Experiment Videos

  • Analysis of storage material deposition in cutaneous tissues.

    • Main Results:

    • Skin biopsies reveal characteristic storage material deposition in various metabolic disorders.
    • Microscopic examination aids in identifying and characterizing these deposits.
    • Diagnostic possibilities are expanded by integrating dermatopathology with biochemical data.

    Conclusions:

    • Dermatopathology, particularly microscopic examination of skin biopsies, offers valuable diagnostic avenues for metabolic storage diseases.
    • Further research into specific storage materials and their histopathological correlates is warranted.
    • Integrating dermatopathology enhances the comprehensive diagnosis of these complex genetic conditions.