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

Reticulate hyperpigmentation

R E Schnur1, W R Heymann

  • 1Department of Pediatrics, Children's Regional Hospital, Cooper and Hospital/University Medical Center, Camden, NJ 08103, USA.

Seminars in Cutaneous Medicine and Surgery
|March 1, 1997
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

An acute, ulcerative, sarcoidal tattoo reaction following SARS-CoV-2 mRNA-1273 vaccination.

Dermatology online journal·2022
Same author

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement.

Acta neuropathologica·2019
Same author

Clinical and genetic complexity of Mitchell-Riley/Martinez-Frias syndrome.

Journal of perinatology : official journal of the California Perinatal Association·2014
Same author

Stages of identity development and problem drinking in college women.

Journal of youth and adolescence·2013
Same author

Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.

Molecular syndromology·2011
Same author

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.

Journal of medical genetics·2009
Same journal

Systemic therapy for advanced cutaneous squamous cell carcinoma.

Seminars in cutaneous medicine and surgery·2019
Same journal

Atypical Fibroxanthoma.

Seminars in cutaneous medicine and surgery·2019
Same journal

Introduction, High-Risk Skin Cancer.

Seminars in cutaneous medicine and surgery·2019
Same journal

Emerging technologies for health information in dermatology: opportunities and drawbacks of web-based searches, social media, mobile applications, and direct-to-consumer genetic testing in patient care.

Seminars in cutaneous medicine and surgery·2019
Same journal

MoleMapper: an application for crowdsourcing mole images to advance melanoma early-detection research.

Seminars in cutaneous medicine and surgery·2019
Same journal

Digital imaging applications and informatics in dermatology.

Seminars in cutaneous medicine and surgery·2019
See all related articles

Reticulate pigmentary disorders, including Dyskeratosis congenita (DKC), present with distinctive skin patterns and associated health issues. Further research into genetic causes is crucial for diagnosis and treatment.

Area of Science:

  • Dermatology
  • Genetics
  • Rare Diseases

Background:

  • Reticulate pigmentary disorders share a common characteristic of a net-like pigmentation pattern.
  • Dyskeratosis congenita (DKC) is a primary example, featuring hyperpigmentation, mucosal leukoplakia, and bone marrow dysfunction.
  • These conditions often involve cytogenetic instability and an increased risk of malignancy.

Purpose of the Study:

  • To review and delineate various disorders characterized by reticulate pigmentation.
  • To highlight the clinical features, inheritance patterns, and diagnostic challenges associated with these conditions.
  • To emphasize the need for identifying underlying genetic factors for improved management.

Main Methods:

  • Literature review of disorders with reticulate pigmentation patterns.

Related Experiment Videos

  • Analysis of clinical manifestations, inheritance modes (e.g., X-linked in DKC), and associated symptoms.
  • Discussion of diagnostic difficulties and current treatment limitations.

    • Main Results:

    • DKC is presented as the prototype, with X-linked inheritance being most common and variable expression in females.
    • A spectrum of other reticulate pigmentary disorders are discussed, including Naegeli-Franceschetti-Jadassohn syndrome, Dowling-Degos disease, and Revesz syndrome.
    • Diagnosis, treatment, and genetic counseling remain challenging for most of these rare conditions.

    Conclusions:

    • Reticulate pigmentary disorders encompass a range of conditions with complex clinical presentations.
    • Understanding the genetic basis of these disorders is essential for advancing diagnostic accuracy and therapeutic strategies.
    • Future gene identification holds significant promise for elucidating the pathophysiology and improving patient outcomes.