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Ichthyosis

Last reviewed: 3 Apr 2025
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

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.

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

Assistant Professor

Department of Pathology and Laboratory Medicine

University of California

Los Angeles

CA

Disclosures

DC declares that he has no competing interests.

Physician

Department of Dermatology

Erasme University Hospital

Brussels

Belgium

Disclosures

TS declares that he has no competing interests.

References

Our in-house evidence and editorial teams collaborate with international expert contributors and peer reviewers to ensure that we provide access to the most clinically relevant information possible.

Key articles

Oji V, Traupe H. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol. 2006;16:349-359. Abstract

Craiglow BG. Ichthyosis in the newborn. Semin Perinatol. 2013;37:26-31.Full text  Abstract

Shwayder T. Disorders of keratinization: diagnosis and management. Am J Clin Dermatol. 2004;5:17-29. Abstract

Vahlquist A, Ganemo A, Virtanen M. Congenital ichthyosis: an overview of current and emerging therapies. Acta Derm Venereol. 2008;88:4-14. Abstract

Reference articles

A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
  • Ichthyosis images
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    • Atopic dermatitis
    • Psoriasis
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  • Guidelines

    • Ichthyosis
    • Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents
    More Guidelines
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