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Related Experiment Videos

Harlequin ichthyosis: an ultrastructural study.

R M Fleck1, M Barnadas, W W Schulz

  • 1Department of Dermatology, University of Texas Health Science Center, Dallas.

Journal of the American Academy of Dermatology
|November 1, 1989
PubMed
Summary
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Harlequin ichthyosis, a severe skin disorder, shows abnormal lamellar bodies and lipid layer defects. These ultrastructural changes in the stratum corneum may explain the characteristic skin thickening in affected infants.

Area of Science:

  • Dermatology
  • Genetics
  • Electron Microscopy

Background:

  • Harlequin ichthyosis is a severe congenital genodermatosis.
  • Understanding its pathogenesis is crucial for potential therapeutic strategies.

Observation:

  • Clinical examination revealed characteristic skin features of harlequin fetus.
  • Electron microscopy and freeze-fracture techniques were employed to analyze skin ultrastructure.

Findings:

  • Abnormal large, concentric lamellar bodies were observed.
  • Focal absence of intercellular stratum corneum lipids was noted.
  • Increased desmosome size and tight junction number were identified.

Implications:

  • These ultrastructural findings provide insights into the barrier dysfunction in harlequin ichthyosis.

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  • The observed alterations may contribute to the marked stratum corneum thickening.
  • Further research into the genetic basis and molecular mechanisms is warranted.