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Related Concept Videos

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Related Experiment Video

Updated: Jun 25, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Common genodermatoses: what the pediatrician needs to know.

Julianne A Mann1, Dawn H Siegel

  • 1Department of Dermatology, Oregon Health Sciences University, Portland, OR 97239, USA.

Pediatric Annals
|March 7, 2009
PubMed
Summary
This summary is machine-generated.

Recognizing skin findings aids in diagnosing genetic disorders like incontinentia pigmenti, tuberous sclerosis, and neurofibromatosis. This improves patient care by avoiding unnecessary tests and guiding proper health supervision.

Related Experiment Videos

Last Updated: Jun 25, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Area of Science:

  • Dermatology
  • Genetics
  • Pediatrics

Background:

  • Cutaneous manifestations are key indicators of various genetic disorders.
  • Early and accurate diagnosis of genetic conditions is crucial for effective management.
  • Skin findings can guide diagnostic pathways, preventing unnecessary procedures.

Purpose of the Study:

  • To highlight the diagnostic significance of skin findings in genetic disorders.
  • To emphasize the role of dermatological assessment in identifying conditions like incontinentia pigmenti, tuberous sclerosis, and neurofibromatosis.
  • To advocate for a diagnostic approach prioritizing cutaneous clues.

Main Methods:

  • Review of clinical presentations of genetic disorders with characteristic skin findings.
  • Analysis of diagnostic pathways and the impact of early recognition of skin manifestations.
  • Case examples illustrating the avoidance of invasive procedures through accurate dermatological diagnosis.

Main Results:

  • Specific skin patterns, such as Blaschkoid vesicles, can suggest diagnoses like incontinentia pigmenti, differentiating from infections like herpes simplex virus.
  • Cutaneous features provide critical diagnostic clues for tuberous sclerosis and neurofibromatosis.
  • Accurate diagnosis based on skin findings can prevent unnecessary lumbar punctures and other tests.

Conclusions:

  • Dermatological assessment is vital for the early and accurate diagnosis of genetic disorders.
  • Recognizing characteristic skin findings streamlines diagnostic evaluation and health supervision.
  • Prioritizing skin manifestations can lead to more efficient and patient-centered care for genetic conditions.