Last reviewed: November 2017
Last updated: January  2017

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
  • FHx of ichthyosis

Other diagnostic factors

  • hx of atopy
  • hx of lymphoma, diabetes, systemic lupus erythematosus
  • use of clofazimine, lipid-lowering agents, or butyrophenone
  • alopecia and ectropion in lamellar ichthyosis
  • cryptorchidism and corneal opacities
  • deafness, mental retardation, limb defects, epilepsy, short stature

Risk factors

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

Diagnostic investigations

1st investigations to order

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

Investigations to consider

  • serum phytanic acid
  • genetic testing
  • CT scan
  • serum glucose
  • ANA
Full details

Treatment algorithm

Contributors

Authors VIEW ALL

Assistant Professor of Dermatology and Pediatrics

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 monograph​.

Dr Brittany Craiglow would like to gratefully acknowledge Dr Timothy Patton, a previous contributor to this monograph. TP declares that he has no competing interests.

Peer reviewers VIEW ALL

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.

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