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Ichthyosis

Last reviewed: 22 Oct 2024
Last updated: 11 Jan 2022

Summary

Definition

History and exam

Key diagnostic factors

  • scaling
  • skin changes at birth (in congenital ichthyosis)
  • onset in infancy (in ichthyosis vulgaris and X-linked ichthyosis)
  • adult onset (in acquired ichthyosis)
  • male sex
  • family history of ichthyosis
Full details

Other diagnostic factors

  • history of atopy
  • history of lymphoma, diabetes mellitus, systemic lupus erythematosus
  • use of clofazimine, lipid-lowering agents, or butyrophenone
  • alopecia and ectropion in lamellar ichthyosis
  • cryptorchidism and corneal opacities
  • deafness, intellectual disability, limb defects, epilepsy, short stature
Full details

Risk factors

  • positive family history
  • parental consanguinity
  • use of clofazimine, lipid-lowering agents, or butyrophenone
  • history of lymphoma, diabetes mellitus, systemic lupus erythematosus
Full details

Diagnostic tests

1st tests to order

  • skin biopsy
  • serum cholesterol sulfate
  • lipoprotein electrophoresis
  • steroid sulfatase activity
Full details

Tests to consider

  • serum phytanic acid
  • genetic testing
  • CT scan
  • serum glucose
  • antinuclear antibody
Full details

Treatment algorithm

ONGOING

primary (genetic)

secondary (acquired)

Contributors

Authors

Brittany Craiglow, MD

Associate Adjunct Professor of Dermatology

Yale University

New Haven

CT

Disclosures

BC declares that she is a member of the Foundation for Ichthyosis and Related Skin Types Advisory Board. BC is an author of a reference cited in this topic.

Acknowledgements

Dr Brittany Craiglow would like to gratefully acknowledge Dr Timothy Patton, a previous contributor to this topic.

Disclosures

TP declared that he had no competing interests.

Peer reviewers

David Cassarino, MD, PhD

Assistant Professor

Department of Pathology and Laboratory Medicine

University of California

Los Angeles

CA

Disclosures

DC declares that he has no competing interests.

Thierry Simonart, MD, PhD

Physician

Department of Dermatology

Erasme University Hospital

Brussels

Belgium

Disclosures

TS declares that he has no competing interests.

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  • Guidelines

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