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Decoding Genetic Disease Through the Skin: Lessons From the UDN.

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Summary
This summary is machine-generated.

Specific skin findings, like café au lait macules, significantly aid in diagnosing rare genetic diseases. Early dermatologic evaluation improves diagnostic accuracy and reduces delays for patients with undiagnosed conditions.

Keywords:
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Area of Science:

  • Genetics
  • Dermatology
  • Rare Diseases

Background:

  • Skin findings are early indicators of genetic diseases but are underutilized in diagnosis.
  • Complex or multisystem genetic disorders often present diagnostic challenges.

Purpose of the Study:

  • To investigate the role of dermatologic features in achieving genetic diagnoses within the Undiagnosed Diseases Network (UDN).

Main Methods:

  • Retrospective analysis of 2849 individuals evaluated by the UDN (2015-2025).
  • Comprehensive clinical evaluation and genome-wide sequencing.
  • Identification of skin findings using Human Phenotype Ontology (HPO) terms to assess diagnostic yield.

Main Results:

  • A genetic diagnosis was confirmed in 911 individuals.
  • Specific skin findings, including café au lait macules (OR 6.75) and decreased palmar creases (OR 5.61), were strongly associated with diagnosis.
  • Bruising susceptibility was linked to a lower diagnostic likelihood.

Conclusions:

  • Subtle skin features offer crucial diagnostic clues for rare genetic diseases.
  • Integrating dermatologic evaluation and targeted testing, especially for mosaicism, enhances diagnostic accuracy.
  • Improved diagnostic pathways can shorten the time to answers for affected individuals and families.